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1. Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy

Author

Holzer, Marie-Therese, Uruha, Akinori, Roos, Andreas, Hentschel, Andreas, Schänzer, Anne, Weis, Joachim, Claeys, Kristl G., Schoser, Benedikt, Montagnese, Federica, Goebel, Hans-Hilmar, Huber, Melanie, Léonard-Louis, Sarah, Kötter, Ina, Streichenberger, Nathalie, Gallay, Laure, Benveniste, Olivier, Schneider, Udo, Preusse, Corinna, Krusche, Martin, and Stenzel, Werner

Published
2024
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8. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

Author

Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, and Stojkovic, Tanya

Published
2019
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9. Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression

Author

Hot, Arnaud, Grados, Aurélie, Schleinitz, Nicolas, Gallet, Laure, Streichenberger, Nathalie, Petiot, Philippe, Hachulla, Eric, Launay, David, Devilliers, Hervé, Hamidou, Mohamed, Cornec, Divy, Bienvenu, Boris, Langlois, Vincent, Levesque, Hervé, Delluc, Aurélien, Drouot, Laurent, Charuel, Jean-Luc, Jouen, Fabienne, Romero, Norma, Dubourg, Odile, Leonard-Louis, Sarah, Behin, Anthony, Laforet, Pascal, Stojkovic, Tania, Eymard, Bruno, Costedoat-Chalumeau, Nathalie, Campana-Salort, Emmanuelle, Tournadre, Anne, Musset, Lucile, Bader-Meunier, Brigitte, Kone-Paut, Isabelle, Sibilia, Jean, Servais, Laurent, Fain, Olivier, Larroche, Claire, Diot, Elizabeth, Terrier, Benjamin, De Paz, Raphaël, Dossier, Antoine, Menard, Dominique, Morati, Chafika, Roux, Marielle, Ferrer, Xavier, Martinet, Jeremy, Besnard, Sophie, Bellance, Rémi, Cacoub, Patrice, Saadoun, David, Arnaud, Laurent, Grosbois, Bernard, Herson, Serge, Boyer, Olivier, Allenbach, Yves, Leroux, Gaëlle, Suárez-Calvet, Xavier, Preusse, Corinna, Gallardo, Eduard, Hervier, Baptiste, Rigolet, Aude, Hie, Miguel, Pehl, Debora, Limal, Nicolas, Hufnagl, Peter, Zerbe, Norman, Meyer, Alain, Aouizerate, Jessie, Uzunhan, Yurdagul, Maisonobe, Thierry, Goebel, Hans-Hilmar, Benveniste, Olivier, and Stenzel, Werner

Published
2016
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10. Immune checkpoint inhibitor-related myositis and myocarditis in patients with cancer

Author

Touat, Mehdi, Maisonobe, Thierry, Knauss, Samuel, Ben Hadj Salem, Omar, Hervier, Baptiste, Auré, Karine, Szwebel, Tali-Anne, Kramkimel, Nora, Lethrosne, Claire, Bruch, Jean-Frédéric, Laly, Pauline, Cadranel, Jacques, Weiss, Nicolas, Béhin, Anthony, Allenbach, Yves, Benveniste, Olivier, Lenglet, Timothée, Psimaras, Dimitri, Stenzel, Werner, and Léonard-Louis, Sarah

Published
2018
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12. SORD‐related peripheral neuropathy in a French and Swiss cohort: clinical features, genetic analysis and sorbitol dosage.

Author

Nicolas, Pons, primary, Fernández‐Eulate, Gorka, additional, Pegat, Antoine, additional, Théaudin, Marie, additional, Régis, Guieu, additional, Ripellino, Paolo, additional, Manon, Devedjian, additional, Patrick, Mace, additional, Masingue, Marion, additional, Léonard‐Louis, Sarah, additional, Petiot, Philipe, additional, Roche, Pauline, additional, Bernard, Emilien, additional, Françoise, Bouchour, additional, Jean‐Marc, Good, additional, Verschueren, Annie, additional, Grapperon, Aude‐Marie, additional, Salort, Emmanuelle, additional, Anaïs, Grosset, additional, Chanson, Jean‐Baptiste, additional, Nadaj‐Pakleza, Aleksandra, additional, Bédat‐Millet, Anne‐Laure, additional, Choumert, Ariane, additional, Anne, Barnier, additional, Ghassen, Hamdi, additional, Lesca, Gaëtan, additional, Fabienne, Prieur, additional, Arnaud, Bruneel, additional, Latour, Philippe, additional, Stojkovic, Tanya, additional, Attarian, Shahram, additional, and Bonello‐Palot, Nathalie, additional

Published
2023
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14. SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

Author

Pons, Nicolas, Fernández‐Eulate, Gorka, Pegat, Antoine, Théaudin, Marie, Guieu, Régis, Ripellino, Paolo, Devedjian, Manon, Mace, Patrick, Masingue, Marion, Léonard‐Louis, Sarah, Petiot, Philipe, Roche, Pauline, Bernard, Emilien, Bouhour, Françoise, Good, Jean‐Marc, Verschueren, Annie, Grapperon, Aude‐Marie, Salort, Emmanuelle, Grosset, Anaïs, and Chanson, Jean‐Baptiste

Subjects
PERIPHERAL neuropathy, NUCLEOTIDE sequencing, SORBITOL, MUSCULAR atrophy, CHARCOT-Marie-Tooth disease
Abstract

Background and purpose: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot–Marie–Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD‐related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants. Methods: Patients followed at neuromuscular reference centres in France and Switzerland were ascertained. Sanger sequencing and next generation sequencing were performed to sequence SORD, and mass spectrometry was used to measure patients' serum sorbitol. Results: Thirty patients had SORD peripheral neuropathy associating LL weakness with muscular atrophy, foot deformities (87%), and sometimes proximal LL weakness (20%) or distal upper limb weakness (50%). Eighteen had dHMN, nine had CMT2, and three had intermediate CMT. Most of them had a mild or moderate disease severity. Sixteen carried a homozygous c.757delG (p.Ala253Glnfs*27) variant, and 11 carried compound heterozygous variants, among which four variants were not yet reported: c.403C > G, c.379G > A, c.68_100 + 1dup, and c.850dup. Two unrelated patients with different origins carried a homozygous c.458C > A variant, and one patient carried a new homozygous c.786 + 5G > A variant. Mean serum sorbitol levels were 17.01 mg/L ± 8.9 SD for patients carrying SORD variants. Conclusions: This SORD‐inherited peripheral neuropathy cohort of 30 patients showed homogeneous clinical presentation and systematically elevated sorbitol levels (22‐fold) compared to controls, with both diagnostic and potential therapeutic implications. [ABSTRACT FROM AUTHOR]

Published
2023
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15. Diagnostic accuracy of electromyogram for myositis

Author

Bolko, Loïs, Léonard-Louis, Sarah, Salmon, Jean Hugues, Benveniste, Olivier, Allenbach, Yves, Maisonobe, Thierry, Hôpital Maison Blanche, Centre Hospitalier Universitaire de Reims (CHU Reims), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, and 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience

Published
2021
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16. Systematic retrospective study of 64 patients with anti-Mi2 dermatomyositis: A classic skin rash with a necrotizing myositis and high risk of malignancy

Author

Monseau, Grégoire, Landon-Cardinal, Océane, Stenzel, Werner, Schoindre, Yoland, Mariampillai, Kubéraka, Barete, Stéphane, Martel, Clothilde, Masseau, Agathe, Meyer, Alain, Terrier, Benjamin, Guégan, Sarah, Verneuil, Laurence, Audia, Sylvain, Livideanu, Cristian Bulai, Hachulla, Eric, Kahn, Jean-Emmanuel, Lefevre, Guillaume, Maurier, François, Moulis, Guillaume, Papo, Thomas, Dossier, Antoine, Descamps, Vincent, Salort-Campana, Emmanuelle, Richard, Marie-Aleth, Bergot, Emmanuel, Mortier, Laurent, Costedoat-Chalumeau, Nathalie, Genot, Séverine, Perez, Florian, Piette, Anne-Marie, Samson, Maxime, Schleinitz, Nicolas, Zénone, Thierry, Lacoste, Marie, de Boysson, Hubert, Madaule, Serge, Rigolet, Aude, Champtiaux, Nicolas, Hervier, Baptiste, Bouvier, Anne-Marie, Jooste, Valérie, Léonard-Louis, Sarah, Maisonobe, Thierry, Aouba, Achille, Benveniste, Olivier, Bienvenu, Boris, and Allenbach, Yves

Published
2020
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17. Toxicités sévères immuno-induites par les inhibiteurs de points de contrôle immunitaire : implications pour le réanimateur

Author

Celier, Adam, primary, Allenbach, Yves, additional, Anquetil, Céline, additional, Andreelli, Fabrizio, additional, Bachelot, Anne, additional, Bachet, Jean-Baptiste, additional, Isnard Bagnis, Corinne, additional, Bastin, Marie, additional, Bihan, Kévin, additional, Brechot, Nicolas, additional, Cadranel, Jacques, additional, Canellas, Anthony, additional, Choquet, Sylvain, additional, Ederhy, Stéphane, additional, Fenioux, Charlotte, additional, Hervier, Baptiste, additional, Kerneis, Mathieu, additional, Lebrun Vignes, Bénédicte, additional, Léonard Louis, Sarah, additional, Maisonobe, Thierry, additional, S. Nguyen, Lee, additional, Psimaras, Dimitri, additional, Salem, Joe-Elie, additional, Spano, Jean-Philippe, additional, Thabut, Dominique, additional, Vozy, Aurore, additional, and Weiss, Nicolas, additional

Published
2020
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19. Immune Checkpoint Inhibitor-Associated Myositis: A CharacteristicPhenotype with a Poor Outcome Related to Concomitant Myocarditis

Author

Anquetil, Céline, Salem, Joe-Elie, Lebrun-Vignes, Benedicte, Johnson, Douglas B, Mammen, Andrew, Stenzel, Werner, Léonard-Louis, Sarah, Benveniste, Olivier, Moslehi, Javid J, Allenbach, Yves, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre d'investigation clinique Paris Est [CHU Pitié Salpêtrière] (CIC Paris-Est), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre Régional de Pharmacovigilance (CRPV), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), National Institutes of Health [Bethesda] (NIH), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Institut de Myologie, 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Vanderbilt University Medical Center [Nashville], and Vanderbilt University [Nashville]

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience

Published
2018
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20. Granulomatous Myositis: Heterogeneity and Response to Treatment

Author

Dieudonné, Yannick, Allenbach, Yves, Benveniste, Olivier, Léonard-Louis, Sarah, Hervier, Baptiste, Mariampillai, Kuberaka, Lannes, Beatrice, Wendling, Daniel, Frenckell, Christan Von, Poursac, Nicolas, Mortier, Emmanuel, Lavigne, Christian, Hinschberger, Olivier, Magnant, Julie, Geny, Bernard, Sibilia, Jean, Meyer, Alain, Immunopathologie et chimie thérapeutique (ICT), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de pathologie [CHU Strasbourg], CHU Strasbourg, Service de Rhumatologie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Department of Rheumatology Bordeaux, CHU Bordeaux [Bordeaux], Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Médecine Interne, Centre Hospitalier Emile Muller [Mulhouse] (CH E.Muller Mulhouse), Groupe Hospitalier de Territoire Haute Alsace (GHTHA)-Groupe Hospitalier de Territoire Haute Alsace (GHTHA), Université de Tours (UT), Mitochondrie, stress oxydant et protection musculaire (MSP), Université de Strasbourg (UNISTRA), Département des Explorations Fonctionnelles [CHU Strasbourg], Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg ), Service de rhumatologie [Strasbourg], and CHU Strasbourg-Hôpital de Hautepierre [Strasbourg]

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience

Published
2018
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21. Expanding the spectrum of HIV-associated myopathy

Author

Landon-Cardinal, Océane, primary, Gallay, Laure, additional, Dubourg, Odile, additional, Maisonobe, Thierry, additional, Léonard-Louis, Sarah, additional, Beniken, Dalila, additional, Simon, Anne, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Duyckaerts, Charles, additional, Breton, Guillaume, additional, Rigolet, Aude, additional, Fain, Olivier, additional, Meyohas, Marie-Caroline, additional, Leport, Catherine, additional, Valantin, Marc-Antoine, additional, Vittecoq, Daniel, additional, Bergmann, Jean-François, additional, Hanslik, Thomas, additional, Chauveheid, Marie-Paule, additional, Amoura, Zahir, additional, de Broucker, Thomas, additional, Eymard, Bruno, additional, Beaudequin, Nausicaa, additional, Benveniste, Olivier, additional, and Allenbach, Yves, additional

Published
2019
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23. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data

Author

Porcher, Raphaël, Desguerre, Isabelle, Amthor, Helge, Chabrol, Brigitte, Audic, Frédérique, Rivier, François, Isapof, Arnaud, Tiffreau, Vincent, Campana-Salort, Emmanuelle, Leturcq, France, Tuffery-Giraud, Sylvie, Yaou, Rabah Ben, Annane, Djillali, Amédro, Pascal, Barnerias, Christine, Bécane, Henri Marc, Béhin, Anthony, Bonnet, Damien, Bassez, Guillaume, Cossée, Mireille, de La Villéon, Grégoire, Delcourte, Claire, Fayssoil, Abdallah, Fontaine, Bertrand, Godart, François, Guillaumont, Sophie, Jaillette, Emmanuelle, Laforêt, Pascal, Leonard-Louis, Sarah, Lofaso, Frederic, Mayer, Michele, Morales, Raul Juntas, Meune, Christophe, Orlikowski, David, Ovaert, Caroline, Prigent, Hélène, Saadi, Malika, Sochala, Maximilien, Tard, Céline, Vaksmann, Guy, Walther-Louvier, Ulrike, Eymard, Bruno, Stojkovic, Tanya, Ravaud, Philippe, Duboc, Denis, and Wahbi, Karim

Published
2021
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24. Immune-mediated necrotizing myositis in patients receiving immune checkpoint inhibitors: clinical and histopathological features, treatment and outcome (N6.002)

Author

Touat, Mehdi, primary, Maisonobe, Thierry, additional, Knauss, Samuel, additional, Salem, Omar Ben-Hadj, additional, Hervier, Baptiste, additional, Auré, Karine, additional, Szwebel, Tali-Anne, additional, Kramkimel, Nora, additional, Lethrosne, Claire, additional, Bruch, Jean-Frédéric, additional, Laly, Pauline, additional, Cadranel, Jacques, additional, Béhin, Anthony, additional, Allenbach, Yves, additional, Benveniste, Olivier, additional, Lenglet, Timothée, additional, Psimaras, Dimitri, additional, Stenzel, Werner, additional, and Léonard-Louis, Sarah, additional

Published
2018
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26. LRSAM1variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

Author

Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, and Stojkovic, Tanya

Abstract

Currently only 25–30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. We collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French laboratories. Seventy-two patients with autosomal dominant inheritance were identified. The disease usually started in the fourth decade and the clinical picture was dominated by sensory ataxia (80%), neuropathic pain (38%), and length-dependent sensory loss to all modalities. Electrophysiological studies showed a primarily axonal neuropathy, with possible isolated sensory involvement in milder phenotypes. Disease severity varied greatly but the clinical course was generally mild. We identified 2 novel variants in LRSAM1gene: a deletion of 4 amino acids, p.(Gln698_Gln701del), was found in 7 families and a duplication of a neighboring region of 10 amino acids, p.(Pro702_Gln711dup), in the remaining family. A common haplotype of ~450 kb suggesting a founder effect was noted around LRSAM1in 4 families carrying the first variant. LRSAM1 geneencodes for an E3 ubiquitin ligase important for neural functioning. Our results confirm the localization of variants in its catalytic C-terminal RING domain and broaden the phenotypic spectrum of LRSAM1-related neuropathies, including painful and predominantly sensory ataxic forms.

Published
2019
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27. Les polyneuropathies inflammatoires chroniques démyélinisantes

Author

Léonard-Louis, Sarah, Université Henri Poincaré - Nancy 1 (UHP), UHP - Université Henri Poincaré, and Marc Debouverie

Subjects
Polynévrite, Système nerveux-Maladies, [SDV]Life Sciences [q-bio], Thèse d'exercice de médecine, Non disponible / Not available
Abstract

Les polyneuropathies (PN) inflammatoires chroniques démyélinisantes constituentun groupe hétérogène d'affections inflammatoires ou dysimmunitaires du nerfpériphérique d'individualisation récente et parmi lesquelles nous retenons troisgroupes principaux : les polyradiculonévrites chroniques (PRNC), les PNdémyélinisantes associées à une gammapathie monoclonale IgM à activité anti-MAGet les neuropathies motrices multifocales à blocs de conduction (NMMBC).Si les tableaux cliniques évocateurs de ces PN sont maintenant bien connus, denombreuses difficultés pratiques apparaissent à la prise en charge des patients enterme diagnostique et thérapeutique.Le but de notre travail était d'abord de réunir, grâce à la base de donnéesinformatiques SUSIE, les cas de PN inflammatoires chroniques démyélinisantessuivis dans le service de neurologie de Nancy et de les comparer aux donnéesbibliographiques. Nous avons rassemblé 19 dossiers, parmi lesquels 6 patientsatteints de PRNC, 6 patients atteints de PN démyélinisante associée à une GM IgM àactivité anti-MAG et 6 cas de NMMBC qui correspondaient aux tableauxnosologiques décrits dans la littérature.Ensuite, en l'absence de consensus actuel, nous avons proposé pour chaque entitéde nouveaux critères diagnostiques , une stratégie thérapeutique, des échellesd'évaluation clinique et fonctionnelle , en essayant de refléter au mieux et de faire la synthèse à la fois de nos propres résultats et des données bibliographiques.Sans avoir de caractère exhaustif, ces propositions ont pour but de nous aider auquotidien dans la prise en charge des PN inflammatoires chroniques démyélinisantesafin de rationnaliser notre stratégie diagnostique et thérapeutique.

Published
2003

28. MYH7 -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.

Author

Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, and Villar-Quiles RN

Abstract

Background: Myosin heavy chain 7 ( MYH7 )-related myopathies ( MYH7 -RMs) are a group of muscle disorders linked to pathogenic variants in the MYH7 gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement., Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 MYH7 patients. Patients received a thorough neurological (n=57, 100%), cardiac (n=51, 89%) and respiratory (n=45, 79%) assessment. Muscle imaging findings and muscle biopsies were reappraised in 19 (33%) and 27 (47%) patients, respectively., Results: We identified three phenotypes with varying degrees of overlap: distal myopathy (70%), scapuloperoneal (23%) and axial with peculiar cervical spine rigidity called the 'sphinx' phenotype (7%). 14% of patients had either dilated cardiomyopathy, hypertrophic cardiomyopathy or left ventricular non-compaction cardiomyopathy. 31% of patients had prominent respiratory involvement, including all patients with the 'sphinx' phenotype. Muscle MRI showed involvement of tibialis anterior, followed by quadriceps, and erector spinae in patients with axial phenotype. Cores represented the most common myopathological lesion. We report 26 pathogenic variants of MYH7 gene, 9 of which are novel., Conclusions: MYH7 -RMs have a large phenotypic spectrum, including distal, scapuloperoneal or axial weakness, and variable cardiac and respiratory involvement. Tibialis anterior is constantly and precociously affected both clinically and on muscle imaging. Cores represent the most common myopathological lesion. Our detailed description of MYH7 -RMs should improve their recognition and management., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2024
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