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51. Muscle-Eye-Brain Disease

Author

Shenoy, Anant M, Markowitz, Jennifer A, Bonnemann, Carsten G, Krishnamoorthy, Kalpathy, Bossler, Aaron D, and Tseng, Brian S

Published
2010
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53. Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

Author

Flanigan, Kevin M., Dunn, Diane M., Niederhausern, Andrew von, Soltanzadeh, Payam, Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Mendell, Jerry R., Wall, Cheryl, King, Wendy M., Pestronk, Alan, Florence, Julaine M., Connolly, Anne M., Mathews, Katherine D., Stephan, Carrie M., Laubenthal, Karla S., Wong, Brenda L., Morehart, Paula J., Meyer, Amy, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Day, John W., Dalton, Joline C., Margolis, Marcia K., Hinton, Veronica J., and Weiss, Robert B.

Published
2009
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56. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

Author

Noguchi, Satoru, McNally, Elizabeth M., Othmane, Kamel Ben, Hagiwara, Yasuko, Mizuno, Yuji, Yoshida, Mikiharu, Yamamoto, Hideko, Bonnemann, Carsten G., Gussoni, Emanuela, Denton, Peter H., Kriakides, Theodoros, Middleton, Lefkos, Hentati, Faycal, Hamida, Mongi Ben, Nonaka, Ikuya, Vance, Jeffery M., Kunkel, Louis M., and Ozawa, Eijiro

Subjects
Dystrophin -- Research -- Genetic aspects, Muscular dystrophy -- Genetic aspects -- Research, Chromosome mapping -- Research -- Genetic aspects, Science and technology, Research, Genetic aspects
Abstract

Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13ql2. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, y-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human y-sarcoglycan gene was mapped to chromosome 13ql2, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect y-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex., The muscular dystrophies are genetically heterogeneous (1). X-linked recessive muscular dystrophy, or Duchenne muscular dystrophy (DMD), is the most common form and arises from mutations in the dystrophin gene (2). [...]

Published
1995

57. Common Data Elements for Muscle Biopsy Reporting

Author

Dastgir, Jahannaz, Rutkowski, Anne, Alvarez, Rachel, Cossette, Stacy A., Yan, Ke, Hoffmann, Raymond G., Sewry, Caroline, Hayashi, Yukiko K., Goebel, Hans-Hilmar, Bonnemann, Carsten, and Lawlor, Michael W.

Subjects
Medical research, Nervous system diseases -- Research -- Diagnosis, Genetic disorders -- Research -- Diagnosis, Health
Abstract

Context.--There is no current standard among myopathologists for reporting muscle biopsy findings. The National Institute of Neurological Disorders and Stroke has recently launched a common data element (CDE) project to standardize neuromuscular data collected in clinical reports and to facilitate their use in research. Objective.--To develop a more-uniform, prospective reporting tool for muscle biopsies, incorporating the elements identified by the CDE project, in an effort to improve reporting and educational resources. Design.--The variation in current biopsy reporting practice was evaluated through a study of 51 muscle biopsy reports from self-reported diagnoses of genetically confirmed or undiagnosed muscle disease from the Congenital Muscle Disease International Registry. Two reviewers independently extracted data from deidentified reports and entered them into the revised CDE format to identify what was missing and whether or not information provided on the revised CDE report (complete/incomplete) could be successfully interpreted by a neuropathologist. Results.--Analysis of the data highlighted showed (1) inconsistent reporting of key clinical features from referring physicians, and (2) considerable variability in the reporting of pertinent positive and negative histologic findings by pathologists. Conclusions.--We propose a format for muscle-biopsy reporting that includes the elements in the CDE checklist and a brief narrative comment that interprets the data in support of a final interpretation. Such a format standardizes cataloging of pathologic findings across the spectrum of muscle diseases and serves emerging clinical care and research needs with the expansion of genetic-testing therapeutic trials. (Arch Pathol Lab Med. 2016; 140:51-65; doi: 10.5858/arpa.2014-0453-OA), The muscle biopsy is an essential, and frequently used, diagnostic tool in the evaluation of pediatric and adult neuromuscular disorders, but its usefulness may be limited by poor communication from [...]

Published
2016
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59. Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases

Author

Moreno, Cristiane Araújo Martins, primary, Estephan, Eduardo de Paula, additional, Fappi, Alan, additional, Monges, Soledad, additional, Lubieniecki, Fabiana, additional, Lopes Abath Neto, Osório, additional, Reed, Umbertina Conti, additional, Donkervoort, Sandra, additional, Harms, Matthew B., additional, Bonnemann, Carsten, additional, and Zanoteli, Edmar, additional

Published
2020
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60. Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

Author

Mohammadi, Pejman, primary, Castel, Stephane E., additional, Cummings, Beryl B., additional, Einson, Jonah, additional, Sousa, Christina, additional, Hoffman, Paul, additional, Donkervoort, Sandra, additional, Mohassel, Payam, additional, Foley, Reghan, additional, Wheeler, Heather E., additional, Im, Hae Kyung, additional, Bonnemann, Carsten G., additional, MacArthur, Daniel G., additional, and Lappalainen, Tuuli, additional

Published
2019
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61. Breaking the sound barrier of randomized, controlled trials in congenital myopathies: results of the N-acetylcysteine trial in RYR1-related disorders (S23.004)

Author

Todd, Joshua, primary, Witherspoon, Jessica, additional, Chrismer, Irene, additional, Razaqyar, Sonia, additional, Punjabi, Monal, additional, Elliott, Jeff, additional, Tounkara, Fatoumata, additional, Kuo, Anna, additional, Shelton, Monique, additional, Lawal, Tokunbor, additional, Allen, Carolyn, additional, Cosgrove, Molly, additional, Linton, Melody, additional, Lehky, Tanya, additional, Jain, Minal, additional, Melissa, Waite, additional, Drinkard, Bart, additional, Wakim, Paul, additional, Dowling, James, additional, Bonnemann, Carsten, additional, Emile-Backer, Magalie, additional, and Meilleur, Katherine, additional

Published
2019
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65. An ultrafast system for signaling mechanical pain in human skin

Author

Nagi, Saad S., Marshall, Andrew G., Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderstrom, Mikael, Shaikh, Sumaiya, O'Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A. Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bonnemann, Carsten G., Chesler, Alexander T., Bushnell, M. Catherine, McGlone, Francis, Olausson, Hakan, Nagi, Saad S., Marshall, Andrew G., Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderstrom, Mikael, Shaikh, Sumaiya, O'Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A. Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bonnemann, Carsten G., Chesler, Alexander T., Bushnell, M. Catherine, McGlone, Francis, and Olausson, Hakan

Abstract

The canonical view is that touch is signaled by fast-conducting, thickly myelinated afferents, whereas pain is signaled by slow-conducting, thinly myelinated (“fast” pain) or unmyelinated (“slow” pain) afferents. While other mammals have thickly myelinated afferents signaling pain (ultrafast nociceptors), these have not been demonstrated in humans. Here, we performed single-unit axonal recordings (microneurography) from cutaneous mechanoreceptive afferents in healthy participants. We identified A-fiber high-threshold mechanoreceptors (A-HTMRs) that were insensitive to gentle touch, encoded noxious skin indentations, and displayed conduction velocities similar to A-fiber low-threshold mechanoreceptors. Intraneural electrical stimulation of single ultrafast A-HTMRs evoked painful percepts. Testing in patients with selective deafferentation revealed impaired pain judgments to graded mechanical stimuli only when thickly myelinated fibers were absent. This function was preserved in patients with a loss-of-function mutation in mechanotransduction channel PIEZO2. These findings demonstrate that human mechanical pain does not require PIEZO2 and can be signaled by fast-conducting, thickly myelinated afferents.

Published
2019
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66. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

Author

Bolduc, Veronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valerie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric, Wilton, Steve D., Lamande, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco, Bonnemann, Carsten G., Bolduc, Veronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valerie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric, Wilton, Steve D., Lamande, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco, and Bonnemann, Carsten G.

Abstract

The clinical application of advanced next-generation sequencing technologies is increasingly uncovering novel classes of mutations that may serve as potential targets for precision medicine therapeutics. Here, we show that a deep intronic splice defect in the COL6A1 gene, originally discovered by applying muscle RNA sequencing in patients with clinical findings of collagen VI-related dystrophy (COLE-RD), inserts an in-frame pseudoexon into COL6A1 mRNA, encodes a mutant collagen alpha 1(VI) protein that exerts a dominant-negative effect on collagen VI matrix assembly, and provides a unique opportunity for splice-correction approaches aimed at restoring normal gene expression. Using splice-modulating antisense oligomers, we efficiently skipped the pseudoexon in patient-derived fibroblast cultures and restored a wild-type matrix. Similarly, we used CRISPR/Cas9 to precisely delete an intronic sequence containing the pseudoexon and efficiently abolish its inclusion while preserving wild-type splicing. Considering that this splice defect is emerging as one of the single most frequent mutations in COL6-RD, the design of specific and effective splice-correction therapies offers a promising path for clinical translation.

Published
2019

67. Dominant collagen XII mutations cause a distal myopathy

Author

Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Veronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bonnemann, Carsten G., Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Veronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, and Bonnemann, Carsten G.

Abstract

Objective To characterize the natural history and clinical features of myopathies caused by mono-allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1-related myopathies were characterized by history and clinical examination, muscle imaging, and genetic analysis. Pathogenicity of the variants was assessed by immunostaining patient-derived dermal fibroblast cultures for collagen XII. Results Four independent families with childhood-onset weakness due to novel, dominantly acting pathogenic variants in COL12A1 were identified. Adult patients exhibited distal-predominant weakness. Three families carried dominantly acting glycine missense variants, and one family had a heterozygous, intragenic, in-frame deletion of exon 52 of COL12A1. All pathogenic variants resulted in increased intracellular retention of collagen XII in patient-derived fibroblasts as well as loss of extracellular, fibrillar collagen XII deposition. Since haploinsufficiency for COL12A1 is largely clinically asymptomatic, we designed and evaluated small interfering RNAs (siRNAs) that specifically target the mutant allele containing the exon 52 deletion. Immunostaining of the patient fibroblasts treated with the siRNA showed a near complete correction of collagen XII staining patterns. Interpretation This study characterizes a distal myopathy phenotype in adults with dominant COL12A1 pathogenic variants, further defining the phenotypic spectrum and natural history of COL12A1-related myopathies. This work also provides proof of concept of a precision medicine treatment approach by proposing and validating allele-specific knockdown using siRNAs specifically designed to target a patient's dominant COL12A1 disease allele.

Published
2019

68. A Cross-Sectional Study of Nemaline Myopathy.

Author

Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bonnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, and Syed, Faiza

Published
2021
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69. Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Author

Dunn, Diane M., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Bromberg, Mark B., Butterfield, Russell, Kerr, Lynne, Pestronk, Alan, Florence, Julaine M., Connolly, Anne, Lopate, Glenn, Golumbek, Paul, Schierbecker, Jeanine, Malkus, Betsy, Renna, Renee, Siener, Catherine, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Glanzman, Allan M., Flickinger, Jean, Mendell, Jerry R., King, Wendy M., Lowes, Linda, Alfano, Lindsay, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Baldwin, Kris, Wong, Brenda, Morehart, Paula, Meyer, Amy, Day, John W., Naughton, Cameron E., Margolis, Marcia, Cnaan, Avital, Abresch, Richard T., Henricson, Erik K., Morgenroth, Lauren P., Duong, Tina, Chidambaranathan, V. Viswanathan, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean, Tulinius, Mar, Leshner, Robert, Rocha, Carolina Tesi, Thangarajh, Mathula, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Teasley, Jean, Bertorini, Tulio E., North, Kathryn, Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Karachunski, Peter, Bodensteiner, John B., Bello, Luca, Flanigan, Kevin M., Weiss, Robert B., Spitali, Pietro, Aartsma-Rus, Annemieke, Muntoni, Francesco, Zaharieva, Irina, Ferlini, Alessandra, Mercuri, Eugenio, Tuffery-Giraud, Sylvie, Claustres, Mireille, Straub, Volker, Lochmüller, Hanns, Barp, Andrea, Vianello, Sara, Pegoraro, Elena, Punetha, Jaya, Gordish-Dressman, Heather, Giri, Mamta, McDonald, Craig M., and Hoffman, Eric P.

Published
2016
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70. Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement

Author

Dabaj, Ivana, primary, Carlier, Robert Y, additional, Gómez‐Andrés, David, additional, Neto, Osório Abath, additional, Bertini, Enrico, additional, D'amico, Adele, additional, Fattori, Fabiana, additional, PéRéon, Yann, additional, Castiglioni, Claudia, additional, Rodillo, Eliana, additional, Catteruccia, Michela, additional, Guimarães, júlio Brandão, additional, Oliveira, Acary Souza Bulle, additional, Reed, Umbertina Conti, additional, Mesrob, Lilia, additional, Lechner, Doris, additional, Boland, Anne, additional, Deleuze, Jean‐François, additional, Malfatti, Edoardo, additional, Bonnemann, Carsten, additional, Laporte, Jocelyn, additional, Romero, Norma, additional, Felter, Adrien, additional, Quijano‐Roy, Susana, additional, Moreno, Cristiane Araújo Martins, additional, and Zanoteli, Edmar, additional

Published
2018
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71. Tracking diaphragm and chest wall movement on cine-MRI

Author

Yao, Jianhua, primary, Zhu, Robert, additional, Yun, Pomi, additional, Hsieh, Nathan, additional, Kovacs, William, additional, Arai, Andrew E., additional, Mankodi, Ami, additional, Summers, Ronald M., additional, Foley, A. Reghan, additional, and Bonnemann, Carsten G, additional

Published
2018
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72. Association Study of Exon Variants in the NF-kappa B and TGF beta Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Author

Bello, Luca, Punetha, Jaya, Gordish Dressman, Heather, Giri, Mamta, Hoffman, Eric P, Barp, Andrea, Vianello, Sara, Pegoraro, Elena, Flanigan, Kevin M., Weiss, Robert B., Spitali, Pietro, Aartsma Rus, Annemieke, Straub, Volker, Lochmüller, Hanns, Muntoni, Francesco, Zaharieva, Irina, Ferlini, Alessandra, Mercuri, Eugenio Maria, Tuffery Giraud, Sylvie, Claustres, Mireille, Mcdonald, Craig M., Dunn, Diane M., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Bromberg, Mark B., Butterfield, Russell, Kerr, Lynne, Pestronk, Alan, Florence, Julaine M., Connolly, Anne, Lopate, Glenn, Golumbek, Paul, Schierbecker, Jeanine, Malkus, Betsy, Renna, Renee, Siener, Catherine, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Glanzman, Allan M., Flickinger, Jean, Mendell, Jerry R., King, Wendy M., Lowes, Linda, Alfano, Lindsay, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Baldwin, Kris, Wong, Brenda, Morehart, Paula, Meyer, Amy, Day, John W., Naughton, Cameron E., Margolis, Marcia, Cnaan, Avital, Abresch, Richard T., Henricson, Erik K., Morgenroth, Lauren P., Duong, Tina, Chidambaranathan, V. Viswanathan, Biggar, W. Douglas, Mcadam, Laura C., Mah, Jean, Tulinius, Mar, Leshner, Robert, Rocha, Carolina Tesi, Thangarajh, Mathula, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel Hamid, Hoda, Connolly, Anne M., Teasley, Jean, Bertorini, Tulio E., North, Kathryn, Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Karachunski, Peter, Bodensteiner, John B., Universita degli Studi di Padova, Department of Pediatric Nephrology, Maria Fareri Children's Hospital, Valhalla, New York, New York Medical College (NYMC), Human Genetics, Great Ormond Street Hospital for Children [London] (GOSH), Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, Università degli Studi di Ferrara (UniFE), Università cattolica del Sacro Cuore [Milano] (Unicatt), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Neurology, Newcastle University [Newcastle], Department of Neurosciences [Padova, Italy], University of Padova [Padova, Italy], Massachusetts General Hospital [Boston], King‘s College London, Division of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, Child Development & Exercise Center, Royal Children's Hospital, Washington University in Saint Louis (WUSTL), Institute for Neuromuscular Research, The University of Sydney, Rothamsted Research, University of Alberta, Department of Pediatrics, Feinberg School of Medicine, Northwestern University [Evanston]-Northwestern University [Evanston]-Northwestern University, Stanford School of Medicine [Stanford], Stanford Medicine, and Stanford University-Stanford University

Subjects
0301 basic medicine, Candidate gene, Genetics, Genetics (clinical), Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Genome-wide association study, Dystrophin, 0302 clinical medicine, Transforming Growth Factor beta, Osteopontin, Muscular Dystrophy, Muscular dystrophy, Modifier, Child, Exome, biology, NF-kappa B, Exons, Single Nucleotide, Adolescent, European Continental Ancestry Group, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, White People, NO, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Report, medicine, Humans, CD40 Antigens, Polymorphism, Glucocorticoids, Alleles, Case-Control Studies, Genes, Modifier, Genome-Wide Association Study, Latent TGF-beta Binding Proteins, Muscular Dystrophy, Duchenne, Mutation, medicine.disease, Duchenne, 030104 developmental biology, Genes, biology.protein, 030217 neurology & neurosurgery
Abstract

International audience; The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes (SPP1, encoding osteopontin, and LTBP4, encoding latent transforming growth factor β [TGFβ]-binding protein 4) have been established as DMD modifiers. We performed a genome-wide association study of age at LoA in a sub-cohort of European or European American ancestry (n = 109) from the Cooperative International Research Group Duchenne Natural History Study (CINRG-DNHS). We focused on protein-altering variants (Exome Chip) and included glucocorticoid treatment as a covariate. As expected, due to the small population size, no SNPs displayed an exome-wide significant p value (< 1.8 × 10-6). Subsequently, we prioritized 438 SNPs in the vicinities of 384 genes implicated in DMD-related pathways, i.e., the nuclear-factor-κB and TGFβ pathways. The minor allele at rs1883832, in the 5'-untranslated region of CD40, was associated with earlier LoA (p = 3.5 × 10-5). This allele diminishes the expression of CD40, a co-stimulatory molecule for T cell polarization. We validated this association in multiple independent DMD cohorts (United Dystrophinopathy Project, Bio-NMD, and Padova, total n = 660), establishing this locus as a DMD modifier. This finding points to cell-mediated immunity as a relevant pathogenetic mechanism and potential therapeutic target in DMD.

Published
2016
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73. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

Author

Hoffman, E.P., primary, Bonnemann, Carsten, additional, Boutin, Marc, additional, Brais, Bernard, additional, Buccella, Filippo, additional, Burghes, Arthur, additional, Coffey, Christopher, additional, Dasgupta, Nabarun, additional, Dawkins, Hugh, additional, De Luca, Annamaria, additional, Dowd, Christopher, additional, Duong, Tina, additional, Eagle, Michelle, additional, Finkel, Richard, additional, Furlong, Pat, additional, Gagnon, Cynthia, additional, Goemans, Nathalie, additional, Guglieri, Michela, additional, Hathout, Yetrib, additional, Johnson, Nicholas, additional, Kakkis, Emil, additional, Kaufmann, Petra, additional, Kimmelman, Jonathan, additional, Korngut, Lawrence, additional, Kullman, Joyce, additional, Lochmüller, Hanns, additional, Marini, Stefano, additional, McDonald, Craig, additional, Mohan, Charles, additional, Morgenroth, Lauren, additional, Morizono, Hiroki, additional, Nagaraju, Kanneboyina, additional, Porter, John, additional, Reilly, Lori, additional, Rüegg, Markus, additional, Schneider, Joel, additional, Spitali, Pietro, additional, Straub, Volker, additional, Sweeney, Lee, additional, Tasca, Giorgio, additional, Turner, Cathy, additional, Veldhuizen, Olav, additional, Verschuuren, Jan, additional, Ward, Susan, additional, and Willmann, Raffaella, additional

Published
2017
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74. 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

Author

Hackman, Peter, primary, Udd, Bjarne, additional, Bönnemann, Carsten G., additional, Ferreiro, Ana, additional, Hackman, Peter, additional, Bonnemann, Carsten, additional, Beggs, Alan, additional, Gautel, Mathias, additional, Davis, Mark, additional, Evangelista, Teresinha, additional, Savarese, Marco, additional, Glumac, Jelena Nikodinovic, additional, Laporte, Jocelyn, additional, Smith, John Edward, additional, Richard, Isabelle, additional, Granzier, Henk, additional, Schneider, Raphäel, additional, Jungbluth, Heinz, additional, Foye, Sarah, additional, and Frase, Alison Rockett, additional

Published
2017
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75. A Dominant-Negative COL6A1 Pseudoexon Insertion Is Skippable Using Splice-Modulating Oligonucleotides

Author

Bolduc, Veronique, Foley, A. Reghan, Donkervoort, Sandra, Hu, Ying, Cummings, Beryl B., Lek, Monkol, Sarathy, Apurva, Sizov, Katherine, Degefa, Herimela Solomon, Wagener, Raimund, Hennig, Grant W., Hanssen, Eric, Lamande, Shireen R., Muntoni, Francesco, Wilton, Steve D., MacArthur, Daniel G., Bonnemann, Carsten G., Bolduc, Veronique, Foley, A. Reghan, Donkervoort, Sandra, Hu, Ying, Cummings, Beryl B., Lek, Monkol, Sarathy, Apurva, Sizov, Katherine, Degefa, Herimela Solomon, Wagener, Raimund, Hennig, Grant W., Hanssen, Eric, Lamande, Shireen R., Muntoni, Francesco, Wilton, Steve D., MacArthur, Daniel G., and Bonnemann, Carsten G.

Published
2017

76. Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

Author

Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Galehdari, Hamid, Bonnemann, Carsten G., Yis, Uluc, Wirth, Brunhilde, Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Galehdari, Hamid, Bonnemann, Carsten G., Yis, Uluc, and Wirth, Brunhilde

Published
2017

78. Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Author

Bello, Luca, primary, Flanigan, Kevin M., additional, Weiss, Robert B., additional, Spitali, Pietro, additional, Aartsma-Rus, Annemieke, additional, Muntoni, Francesco, additional, Zaharieva, Irina, additional, Ferlini, Alessandra, additional, Mercuri, Eugenio, additional, Tuffery-Giraud, Sylvie, additional, Claustres, Mireille, additional, Straub, Volker, additional, Lochmüller, Hanns, additional, Barp, Andrea, additional, Vianello, Sara, additional, Pegoraro, Elena, additional, Punetha, Jaya, additional, Gordish-Dressman, Heather, additional, Giri, Mamta, additional, McDonald, Craig M., additional, Hoffman, Eric P., additional, Dunn, Diane M., additional, Swoboda, Kathryn J., additional, Gappmaier, Eduard, additional, Howard, Michael T., additional, Sampson, Jacinda B., additional, Bromberg, Mark B., additional, Butterfield, Russell, additional, Kerr, Lynne, additional, Pestronk, Alan, additional, Florence, Julaine M., additional, Connolly, Anne, additional, Lopate, Glenn, additional, Golumbek, Paul, additional, Schierbecker, Jeanine, additional, Malkus, Betsy, additional, Renna, Renee, additional, Siener, Catherine, additional, Finkel, Richard S., additional, Bonnemann, Carsten G., additional, Medne, Livija, additional, Glanzman, Allan M., additional, Flickinger, Jean, additional, Mendell, Jerry R., additional, King, Wendy M., additional, Lowes, Linda, additional, Alfano, Lindsay, additional, Mathews, Katherine D., additional, Stephan, Carrie, additional, Laubenthal, Karla, additional, Baldwin, Kris, additional, Wong, Brenda, additional, Morehart, Paula, additional, Meyer, Amy, additional, Day, John W., additional, Naughton, Cameron E., additional, Margolis, Marcia, additional, Cnaan, Avital, additional, Abresch, Richard T., additional, Henricson, Erik K., additional, Morgenroth, Lauren P., additional, Duong, Tina, additional, Chidambaranathan, V. Viswanathan, additional, Biggar, W. Douglas, additional, McAdam, Laura C., additional, Mah, Jean, additional, Tulinius, Mar, additional, Leshner, Robert, additional, Rocha, Carolina Tesi, additional, Thangarajh, Mathula, additional, Kornberg, Andrew, additional, Ryan, Monique, additional, Nevo, Yoram, additional, Dubrovsky, Alberto, additional, Clemens, Paula R., additional, Abdel-Hamid, Hoda, additional, Connolly, Anne M., additional, Teasley, Jean, additional, Bertorini, Tulio E., additional, North, Kathryn, additional, Webster, Richard, additional, Kolski, Hanna, additional, Kuntz, Nancy, additional, Driscoll, Sherilyn, additional, Carlo, Jose, additional, Gorni, Ksenija, additional, Lotze, Timothy, additional, Karachunski, Peter, additional, and Bodensteiner, John B., additional

Published
2016
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80. Common Data Elements for Muscle Biopsy Reporting

Author

Dastgir, Jahannaz, primary, Rutkowski, Anne, additional, Alvarez, Rachel, additional, Cossette, Stacy A., additional, Yan, Ke, additional, Hoffmann, Raymond G., additional, Sewry, Caroline, additional, Hayashi, Yukiko K., additional, Goebel, Hans-Hilmar, additional, Bonnemann, Carsten, additional, and Lawlor, Michael W., additional

Published
2015
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82. Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Author

Wang, Ching, Bonnemann, Carsten G, Rutkowski, Anne, Sejersen, Thomas, Bellini, Jonathan, Battista, Vanessa, Florence, Julaine M, Schara, Ulrike, Schuler, Pamela M, Wahbi, Kari, Aloysius, Annie, Bash, Robert O, Béroud, Christophe, Bertini, Enrico, Bushby, Kate, Cohn, Ronald D, Connolly, Anne M, Deconinck, Nicolas, Desguerre, Isabelle, Eagle, Michelle, Estournet-Mathiaud, Brigitte, Ferreiro, Ana, Fujak, Albert, Goemans, Nathalie, Iannaccone, Susan T, Jouinot, Patricia, Main, Marion, Melacini, Paola, Mueller-Felber, Wolfgang, Muntoni, Francesco, Nelson, Leslie L, Rahbek, Jes, Quijano-Roy, Susana, Sewry, Caroline, Storhaug, Kari, Simonds, Anita, Tseng, Brian, Vajsar, Jiri, Vianello, Andrea, Zeller, Reinhard, For Congenital Muscular Dystrophy, International Standard of Care Committee, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Dept. Medical Biochemistry, Biology and Physics, Department of Neurology, Universiteit Gent = Ghent University (UGENT), Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Raymond Poincaré [AP-HP], Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Texas Scottish Rite Hospital for Children, University of Texas Southwestern Medical Center [Dallas], The Dubowitz Neuromuscular Centre, Imperial College London, Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), RJAH Orthopaedic NHS Trust, Hôpital Cochin [AP-HP], Universiteit Gent = Ghent University [Belgium] (UGENT), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC)

Subjects
Male, medicine.medical_specialty, Palliative care, Neuromuscular disease, International Cooperation, medicine.medical_treatment, Medizin, MEDLINE, Global Health, Article, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Clinical Protocols, 030225 pediatrics, medicine, Global health, Humans, Child, Rehabilitation, business.industry, Health technology, Standard of Care, Congresses as Topic, medicine.disease, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Family medicine, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Physical therapy, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

International audience; Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.

Published
2010
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84. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

Author

Bonnemann, Carsten, Boutin, Marc, Brais, Bernard, Buccella, Filippo, Burghes, Arthur, Coffey, Christopher, Dasgupta, Nabarun, Dawkins, Hugh, De Luca, Annamaria, Dowd, Christopher, Duong, Tina, Eagle, Michelle, Finkel, Richard, Furlong, Pat, Gagnon, Cynthia, Goemans, Nathalie, Guglieri, Michela, Hathout, Yetrib, Johnson, Nicholas, Kakkis, Emil, Kaufmann, Petra, Kimmelman, Jonathan, Korngut, Lawrence, Kullman, Joyce, Lochmüller, Hanns, Marini, Stefano, McDonald, Craig, Mohan, Charles, Morgenroth, Lauren, Morizono, Hiroki, Nagaraju, Kanneboyina, Porter, John, Reilly, Lori, Rüegg, Markus, Schneider, Joel, Spitali, Pietro, Straub, Volker, Sweeney, Lee, Tasca, Giorgio, Turner, Cathy, Veldhuizen, Olav, Verschuuren, Jan, Ward, Susan, Willmann, Raffaella, and Hoffman, E.P.

Published
2017
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85. 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

Author

Udd, Bjarne, Hackman, Peter, Ferreiro, Ana, Bonnemann, Carsten, Beggs, Alan, Gautel, Mathias, Davis, Mark, Evangelista, Teresinha, Savarese, Marco, Glumac, Jelena Nikodinovic, Laporte, Jocelyn, Smith, John Edward, Richard, Isabelle, Granzier, Henk, Schneider, Raphäel, Jungbluth, Heinz, Foye, Sarah, Frase, Alison Rockett, and Bönnemann, Carsten G.

Published
2017
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87. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations

Author

Vanderver, Adeline, primary, Tonduti, Davide, additional, Kahn, Ilana, additional, Schmidt, Johanna, additional, Medne, Livija, additional, Vento, Jodie, additional, Chapman, Kimberly A., additional, Lanpher, Brendan, additional, Pearl, Phillip, additional, Gropman, Andrea, additional, Lourenco, Charles, additional, Bamforth, John-Steven, additional, Sharpe, Cynthia, additional, Pineda, Mercédes, additional, Schallner, Jens, additional, Bodamer, Olaf, additional, Orcesi, Simona, additional, Oberstein, Saskia A. J. Lesnik, additional, Sistermans, Erik A., additional, Yntema, Helger G., additional, Bonnemann, Carsten, additional, Waldman, Amy T., additional, and van der Knaap, Marjo S., additional

Published
2013
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88. Genotype-phenotype correlations in recessive RYR1-related myopathies

Author

Amburgey, Kimberly, primary, Bailey, Angela, additional, Hwang, Jean H, additional, Tarnopolsky, Mark A, additional, Bonnemann, Carsten G, additional, Medne, Livija, additional, Mathews, Katherine D, additional, Collins, James, additional, Daube, Jasper R, additional, Wellman, Gregory P, additional, Callaghan, Brian, additional, Clarke, Nigel F, additional, and Dowling, James J, additional

Published
2013
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89. Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

Author

Valencia, C. Alexander, primary, Ankala, Arunkanth, additional, Rhodenizer, Devin, additional, Bhide, Shruti, additional, Littlejohn, Martin Robert, additional, Keong, Lisa Mari, additional, Rutkowski, Anne, additional, Sparks, Susan, additional, Bonnemann, Carsten, additional, and Hegde, Madhuri, additional

Published
2013
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90. Consensus Statement on Standard of Care for Congenital Myopathies

Author

Wang, Ching H., primary, Dowling, James J., additional, North, Kathryn, additional, Schroth, Mary K., additional, Sejersen, Thomas, additional, Shapiro, Frederic, additional, Bellini, Jonathan, additional, Weiss, Hali, additional, Guillet, Marc, additional, Amburgey, Kimberly, additional, Apkon, Susan, additional, Bertini, Enrico, additional, Bonnemann, Carsten, additional, Clarke, Nigel, additional, Connolly, Anne M., additional, Estournet-Mathiaud, Brigitte, additional, Fitzgerald, Dominic, additional, Florence, Julaine M., additional, Gee, Richard, additional, Gurgel-Giannetti, Juliana, additional, Glanzman, Allan M., additional, Hofmeister, Brittany, additional, Jungbluth, Heinz, additional, Koumbourlis, Anastassios C., additional, Laing, Nigel G., additional, Main, Marion, additional, Morrison, Leslie A., additional, Munns, Craig, additional, Rose, Kristy, additional, Schuler, Pamela M., additional, Sewry, Caroline, additional, Storhaug, Kari, additional, Vainzof, Mariz, additional, and Yuan, Nanci, additional

Published
2012
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91. MRI in sarcoglycanopathies: a large international cohort study

Author

Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlovíá, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bonnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, and Bruno, Claudio

Abstract

ObjectivesTo characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C–2F) caused by mutations in one of the four genes coding for muscle sarcoglycans.MethodsLower limb MRI scans of patients with LGMD2C–2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well.ResultsScans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones.ConclusionsMuscle involvement on MRI is consistent in patients with LGMD2C–F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.

Published
2018
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92. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Author

Stankiewicz, Paweł, primary, Kulkarni, Shashikant, additional, Dharmadhikari, Avinash V., additional, Sampath, Srirangan, additional, Bhatt, Samarth S., additional, Shaikh, Tamim H., additional, Xia, Zhilian, additional, Pursley, Amber N., additional, Cooper, M. Lance, additional, Shinawi, Marwan, additional, Paciorkowski, Alex R., additional, Grange, Dorothy K., additional, Noetzel, Michael J., additional, Saunders, Scott, additional, Simons, Paul, additional, Summar, Marshall, additional, Lee, Brendan, additional, Scaglia, Fernando, additional, Fellmann, Florence, additional, Martinet, Danielle, additional, Beckmann, Jacques S., additional, Asamoah, Alexander, additional, Platky, Kathryn, additional, Sparks, Susan, additional, Martin, Ann S., additional, Madan-Khetarpal, Suneeta, additional, Hoover, Jacqueline, additional, Medne, Livija, additional, Bonnemann, Carsten G., additional, Moeschler, John B., additional, Vallee, Stephanie E., additional, Parikh, Sumit, additional, Irwin, Polly, additional, Dalzell, Victoria P., additional, Smith, Wendy E., additional, Banks, Valerie C., additional, Flannery, David B., additional, Lovell, Carolyn M., additional, Bellus, Gary A., additional, Golden-Grant, Kathryn, additional, Gorski, Jerome L., additional, Kussmann, Jennifer L., additional, McGregor, Tracy L., additional, Hamid, Rizwan, additional, Pfotenhauer, Jean, additional, Ballif, Blake C., additional, Shaw, Chad A., additional, Kang, Sung-Hae L., additional, Bacino, Carlos A., additional, Patel, Ankita, additional, Rosenfeld, Jill A., additional, Cheung, Sau Wai, additional, and Shaffer, Lisa G., additional

Published
2011
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98. Molecular organization of sarcoglycan complex in mouse myotubes in culture

Author

Chan, Yiu-Mo, bonnemann, Carsten G., Lidov, Hart G.W., and Kunkel, Louis M.

Subjects
Membrane proteins -- Research, Mutation (Biology) -- Research, Dystrophin -- Research, Crosslinked polymers -- Research, Biological sciences
Abstract

Research was conducted to examine the molecular organization of sarcoglycan complex in mouse myotubes in culture. Results based on coimmunoprecipitation analyses under different stringencies indicate that alpha-sarcoglycan is loosely associated with the other sarcoglycans and that the interaction between delta- and beta-sarcoglycan is particularly strong. Findings also show that delta-sarcoglycan can be cross-linked to the dystroglycan complex.

Published
1998

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