8 results on '"Grandis, M."'
Search Results
2. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
- Author
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Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Italian CMD Network, Berardinelli, A., Comi, G., Donati, M. A., Dotti, M., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Siciliano, G., Simonati, A., Tonin, P., Toscano, A., Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D'Amico, Adele, Santorelli, Filippo M., Berardinelli, Angela, Comi, Giacomo, Donati, Maria Alice, Dotti, Maria Teresa, Grandis, Marina, Magri, Francesca, Maioli, Maria A, Malandrini, Alessandro, Mari, Francesco, Massa, Roberto, Merlini, Luciano, Moggio, Maurizio, Morandi, Lucia O, Musumeci, Olimpia, Pane, Marika, Pini, Antonella, Pegoraro, Elena, Pennisi, Elena M, Peverelli, Lorenzo, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, Sacchini, Michele, Santoro, Lucio, Siciliano, Gabriele, Simonati, Alessandro, Tonin, Paola, Toscano, Antonio, Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Berardinelli, A., Comi, G., Donati, M. A., Dotti, M. T., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, Lucio., Siciliano, G., Simonati, A., Tonin, P., Toscano, A., Department of Medical and Clinical Genetics, and Medicum
- Subjects
0301 basic medicine ,Male ,Genotype-phenotype correlation ,Dystriglycanopathies ,lcsh:Medicine ,GMPPB ,Genotype-phenotype correlations ,Dystroglycanopathie ,Nucleotidyltransferase ,Muscular Dystrophies ,Limb-Girdle ,0302 clinical medicine ,Missense mutation ,Pharmacology (medical) ,Dystroglycan ,Muscular dystrophy ,Dystroglycans ,Muscular Dystrophie ,Genetics (clinical) ,Genetics ,Arthrogryposis ,education.field_of_study ,1184 Genetics, developmental biology, physiology ,General Medicine ,Middle Aged ,Nucleotidyltransferases ,Dystroglycanopathies ,3. Good health ,Congenital muscular dystrophy ,Female ,Limb-girdle muscular dystrophy ,medicine.symptom ,Human ,Adult ,Population ,Mutation, Missense ,Genetic Association Studie ,Biology ,Settore MED/26 ,Aged ,Cross-Sectional Studies ,Genetic Association Studies ,Humans ,Muscular Dystrophies, Limb-Girdle ,Mutation ,Young Adult ,03 medical and health sciences ,Settore MED/39 - NEUROPSICHIATRIA INFANTILE ,Congenital muscular dystrophy, Dystroglycanopathies, Genotype-phenotype correlations, GMPPB, Limb-girdle muscular dystrophy, Genetics (clinical), Pharmacology (medical) ,medicine ,Congenital muscular dystrophy, Dystroglycanopathies, Genotype-phenotype correlations, GMPPB, Limb-girdle muscular dystrophy ,Myopathy ,education ,SERVER ,Cross-Sectional Studie ,STABILITY ,MUTATIONS ,Genetic heterogeneity ,Research ,lcsh:R ,medicine.disease ,030104 developmental biology ,CONGENITAL MUSCULAR-DYSTROPHY ,DEFECTIVE GLYCOSYLATION ,3111 Biomedicine ,Missense ,030217 neurology & neurosurgery - Abstract
Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. We re-sequenced the full set of known disease genes in 73 Italian patients with evidence of either reduced or nearly absent α-dystroglycan to assess genotype-phenotype correlations in this cohort. We used innovative bioinformatic tools to calculate the effects of all described GMPPB mutations on protein function and attempted to correlate them with phenotypic expressions. Results We identified 13 additional cases from 12 families and defined seven novel mutations. Patients displayed variable phenotypes including less typical pictures, ranging from asymptomatic hyperCKemia, to arthrogryposis and congenital clubfoot at birth, and also showed neurodevelopmental comorbidities, such as seizures and ataxic gait, as well as autism-spectrum disorder, which is seldom described in clinical reports of dystroglycanopathies. We also demonstrated that few mutations recur in the Italian GMPPB-mutated population and that alterations of protein stability are the main effects of GMPPB missense variants. Conclusion This work adds to the data on genotype-phenotype correlations in α-DG and offers new bionformatic tools to provide the conceptual framework needed to understand the complexity of these disorders. Electronic supplementary material The online version of this article (10.1186/s13023-018-0863-x) contains supplementary material, which is available to authorized users.
- Published
- 2018
3. Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy
- Author
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Magliano, Lorenza, Obici, Laura, Sforzini, Claudia, Mazzeo, Anna, Russo, Massimo, Cappelli, Francesco, Fenu, Silvia, Luigetti, Marco, Tagliapietra, Matteo, Gemelli, Chiara, Leonardi, Luca, Tozza, Stefano, Pradotto, Luca Guglielmo, Citarelli, Giulia, Mauro, Alessandro, Manganelli, Fiore, Antonini, Giovanni, Grandis, Marina, Fabrizi, Gian Maria, Sabatelli, Mario, Pareyson, Davide, Perfetto, Federico, Merlini, Giampaolo, Vita, Giuseppe, Giulia, Bisogni, Daniela, Calabrese, Davide, Cardellini, Silvia, Casagrande, Tiziana, Cavallaro, Eleonora Di Buduo, Andrea Di Paolantonio, Gentile, Luca, Graceffa, Anita Maria Stella, Sara, Massucco, Alessandra, Milesi, Stefania, Morino, Roberta, Mussinelli, Paola, Saveri, Daniele, Severi, Magliano, Lorenza, Obici, Laura, Sforzini, Claudia, Mazzeo, Anna, Russo, Massimo, Cappelli, Francesco, Fenu, Silvia, Luigetti, Marco, Tagliapietra, Matteo, Gemelli, Chiara, Leonardi, Luca, Tozza, Stefano, Pradotto, Luca Guglielmo, Citarelli, Giulia, Mauro, Alessandro, Manganelli, Fiore, Antonini, Giovanni, Grandis, Marina, Fabrizi, Gian Maria, Sabatelli, Mario, Pareyson, Davide, Perfetto, Federico, Merlini, Giampaolo, Vita, Giuseppe, Magliano, L., Obici, L., Sforzini, C., Mazzeo, A., Russo, M., Cappelli, F., Fenu, S., Luigetti, M., Tagliapietra, M., Gemelli, C., Leonardi, L., Tozza, S., Pradotto, L. G., Citarelli, G., Mauro, A., Manganelli, F., Antonini, G., Grandis, M., Fabrizi, G. M., Sabatelli, M., Pareyson, D., Perfetto, F., Merlini, G., Vita, G., Bisogni, G., Calabrese, D., Cardellini, D., Casagrande, S., Cavallaro, T., Dibuduo, E., Dipaolantonio, A., Gentile, L., Graceffa, A., Massucco, S., Milesi, A., Morino, S., Mussinelli, R., Saveri, P., and Severi, D.
- Subjects
0301 basic medicine ,Adult ,medicine.medical_specialty ,Activities of daily living ,media_common.quotation_subject ,Psychological intervention ,lcsh:Medicine ,ATTRv ,Burden ,Caregiving ,Hereditary transthyretin amyloidosis ,Professional support ,Social network support ,Amyloid Neuropathies, Familial ,Humans ,Italy ,Surveys and Questionnaires ,Quality of Life ,Social Support ,Disease ,030105 genetics & heredity ,Amyloid Neuropathies ,Hereditary transthyretin amyloidosis, ATTRv, Burden, Professional support, Social network support, Caregiving ,03 medical and health sciences ,Social support ,0302 clinical medicine ,Quality of life (healthcare) ,Familial ,medicine ,Pharmacology (medical) ,Psychiatry ,Genetics (clinical) ,media_common ,Social network ,business.industry ,Research ,lcsh:R ,General Medicine ,Hereditary transthyretin amyloidosi ,Settore MED/26 - NEUROLOGIA ,Feeling ,business ,Psychosocial ,030217 neurology & neurosurgery - Abstract
Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s functional autonomy negatively affects the patient’s quality of life and requires increasing involvement of relatives in the patient’s daily life. Family caregiving may become particularly demanding when the patient is no longer able to move independently. This study is focused on the psychosocial aspects of ATTRv from the patient and relative perspectives. In particular, it explored: the practical and psychological burdens experienced by symptomatic patients with ATTRv and their key relatives and the professional and social network support they may rely on; whether burden varied in relation to patients’ and relatives’ socio-demographic variables, patients’ clinical variables, and perceived professional and social network support; and, any difference in burden and support between patients and their matched relatives. Methods The study was carried out on symptomatic patients included in the ATTRv Italian national registry and living with at least one adult relative not suffering from severe illness and being free from ATTRv symptoms. Patients and relatives’ assessments were performed using validated self-reported tools. Results Overall, 141 patients and 69 relatives were evaluated. Constraints of leisure activities, feelings of loss and worries for the future were the consequences of ATTRv most frequently reported by patients and relatives. Both in patients and their relatives, the burden increased with the duration of symptoms and the level of help in daily activities needed by the patient. In the 69 matched patient-relative pairs, the practical burden was significantly higher among the patients than among their relatives, while the psychological burden was similar in the two groups. Moreover, compared to their relatives, patients with ATTRv reported higher levels of professional and social network support. Conclusions These results show that ATTRv is a disease affecting quality of life of both patients and their families. Supporting interventions should be guaranteed to patients, to facilitate their adaptation to the disease, and to their families, to cope as best as possible with the difficulties that this pathology may involve.
- Published
- 2020
4. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
- Author
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Marina Fanin, Roberto Massa, Marina Mora, Guja Astrea, Adele D'Amico, Carlo Minetti, Lorenzo Maggi, Sara Gibertini, Denise Cassandrini, Filippo M. Santorelli, Marina Pedemonte, Liliana Vercelli, Tiziana Mongini, Federica Trucco, Luca Bello, Giacomo Brisca, Claudio Bruno, Marina Grandis, Lucia Ruggiero, Gian Luca Vita, Lucio Santoro, Antonio Petrucci, Rosanna Trovato, Lucia Morandi, Chiara Fiorillo, Paolo Broda, Enrico Bertini, Elena Pegoraro, Eugenio Mercuri, Olimpia Musumeci, Sonia Messina, Carmelo Rodolico, Vincenzo Nigro, Giorgio Tasca, Marika Pane, Antonio Toscano, Maria Sframeli, Marco Savarese, Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L., Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M., Bruno, C., Ruggiero, Lucia, and Santoro, Lucio
- Subjects
0301 basic medicine ,Male ,Pathology ,Cardiomyopathy ,0302 clinical medicine ,Myosin ,Genetics(clinical) ,Pharmacology (medical) ,Child ,Genetics (clinical) ,Medicine(all) ,education.field_of_study ,medicine.diagnostic_test ,Medicine (all) ,Hypertrophic cardiomyopathy ,General Medicine ,Anatomy ,Middle Aged ,Magnetic Resonance Imaging ,Pedigree ,Phenotype ,Lower Extremity ,Child, Preschool ,Female ,Muscle biopsy ,medicine.symptom ,Human ,Adult ,Weakness ,medicine.medical_specialty ,Adolescent ,Genotype ,Population ,Distal myopathy ,Settore MED/26 ,Muscle MRI ,03 medical and health sciences ,Young Adult ,Muscular Diseases ,medicine ,Humans ,education ,Myopathy ,Muscle, Skeletal ,Aged ,Myosin Heavy Chains ,Cardiac Myosin ,business.industry ,Muscular Disease ,Research ,Whole exome sequencing ,Infant, Newborn ,Myosin Heavy Chain ,Myosin heavy chain ,Infant ,medicine.disease ,030104 developmental biology ,Mutation ,MYH7 ,business ,Cardiac Myosins ,030217 neurology & neurosurgery - Abstract
Background Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions. Results As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps. Conclusion This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder. Electronic supplementary material The online version of this article (doi:10.1186/s13023-016-0476-1) contains supplementary material, which is available to authorized users.
- Full Text
- View/download PDF
5. Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.
- Author
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Magliano L, Obici L, Sforzini C, Mazzeo A, Russo M, Cappelli F, Fenu S, Luigetti M, Tagliapietra M, Gemelli C, Leonardi L, Tozza S, Pradotto LG, Citarelli G, Mauro A, Manganelli F, Antonini G, Grandis M, Fabrizi GM, Sabatelli M, Pareyson D, Perfetto F, Merlini G, and Vita G
- Subjects
- Adult, Amyloid Neuropathies, Familial, Humans, Italy, Surveys and Questionnaires, Quality of Life, Social Support
- Abstract
Background: Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient's functional autonomy negatively affects the patient's quality of life and requires increasing involvement of relatives in the patient's daily life. Family caregiving may become particularly demanding when the patient is no longer able to move independently. This study is focused on the psychosocial aspects of ATTRv from the patient and relative perspectives. In particular, it explored: the practical and psychological burdens experienced by symptomatic patients with ATTRv and their key relatives and the professional and social network support they may rely on; whether burden varied in relation to patients' and relatives' socio-demographic variables, patients' clinical variables, and perceived professional and social network support; and, any difference in burden and support between patients and their matched relatives., Methods: The study was carried out on symptomatic patients included in the ATTRv Italian national registry and living with at least one adult relative not suffering from severe illness and being free from ATTRv symptoms. Patients and relatives' assessments were performed using validated self-reported tools., Results: Overall, 141 patients and 69 relatives were evaluated. Constraints of leisure activities, feelings of loss and worries for the future were the consequences of ATTRv most frequently reported by patients and relatives. Both in patients and their relatives, the burden increased with the duration of symptoms and the level of help in daily activities needed by the patient. In the 69 matched patient-relative pairs, the practical burden was significantly higher among the patients than among their relatives, while the psychological burden was similar in the two groups. Moreover, compared to their relatives, patients with ATTRv reported higher levels of professional and social network support., Conclusions: These results show that ATTRv is a disease affecting quality of life of both patients and their families. Supporting interventions should be guaranteed to patients, to facilitate their adaptation to the disease, and to their families, to cope as best as possible with the difficulties that this pathology may involve.
- Published
- 2021
- Full Text
- View/download PDF
6. Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
- Author
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Rota E, Grandis M, Di Sapio A, Ghiglione E, Fiorentino P, Repetto A, Giliberto C, Gemelli C, Morelli N, Schenone A, and Cocito D
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- Female, Humans, Male, Mass Screening, Peripheral Nerves, Fabry Disease complications, Fabry Disease diagnosis, Fabry Disease genetics, Peripheral Nervous System Diseases diagnosis, Polyneuropathies diagnosis, Polyneuropathies genetics
- Abstract
Fabry disease (FD) is a systemic X-linked lysosomal disorder. A 'peripheral nerve variant' of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neuropathy patients with chronic polyneuropathy of undetermined aetiology and demyelinating neuropathy, unresponsive to immunomodulating treatment, were screened for FD. A total of 103 patients (64% males), were enrolled. No typical pathogenetic mutations for FD were identified. We are aware that the study sample was very small, but only a large, unfeasible theoretical sample size could demonstrate a statistically significant increased prevalence of FD in neuropathy patients, as peripheral neuropathy of undetermined cause is uncommon and there is a low prevalence of FD in the general population. Therefore, we are of the opinion that including tailored FD screening in the neuropathy diagnostic work-up, particularly when there are additional clinical characteristics, should be considered.
- Published
- 2020
- Full Text
- View/download PDF
7. Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
- Author
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Grandis M, Geroldi A, Gulli R, Manganelli F, Gotta F, Lamp M, Origone P, Trevisan L, Gemelli C, Fabbri S, Schenone A, Tozza S, Santoro L, Bellone E, and Mandich P
- Subjects
- Female, Humans, Male, Middle Aged, Mutation, Amyloid Neuropathies, Familial diagnosis, Amyloid Neuropathies, Familial genetics, Genetic Predisposition to Disease
- Abstract
Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure.Early diagnosis is pivotal for effective therapeutic options, but it is hampered by the heterogeneity of the clinical spectrum which can lead to misdiagnosis with other neurological condition/disorder such as axonal sensory-motor neuropathy (CMT2) as described in literature.The aim of our study was to search for TTR mutations in a large cohort of selected undiagnosed axonal sensory-motor neuropathy patients to establish if misdiagnosis is frequent or rare in the Italian population.No TTR pathogenic variants were found in our cohort. In conclusion, our study shows that TTR testing not should be straightforward recommended in CMT2 patients but only when "red flags" TTR's features are present.
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- 2018
- Full Text
- View/download PDF
8. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
- Author
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Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, and Bruno C
- Subjects
- Adolescent, Adult, Aged, Cardiac Myosins genetics, Child, Child, Preschool, Female, Genotype, Humans, Infant, Infant, Newborn, Lower Extremity pathology, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Muscular Diseases pathology, Mutation genetics, Myosin Heavy Chains genetics, Pedigree, Phenotype, Young Adult, Cardiac Myosins metabolism, Muscular Diseases diagnosis, Myosin Heavy Chains metabolism
- Abstract
Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions., Results: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps., Conclusion: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.
- Published
- 2016
- Full Text
- View/download PDF
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