MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French co...
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
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Author / Creator
Bahout, Marie , Severa, Gianmarco , Kamoun, Emna , Bouhour, Françoise , Pegat, Antoine , Toutain, Annick , Lagrange, Emmeline , Duval, Fanny , Tard, Celine , De la Cruz, Elisa , Féasson, Léonard , Jacquin-Piques, Agnès , Richard, Pascale , Métay, Corinne , Cavalli, Michele , Romero, Norma Beatriz , Evangelista, Teresinha , Sole, Guilhem , Carlier, Robert Yves , Laforêt, Pascal , Acket, Blandine , Behin, Anthony , Fernández-Eulate, Gorka , Léonard-Louis, Sarah , Quijano-Roy, Susana , Pereon, Yann , Salort-Campana, Emmanuelle , Nadaj-Pakleza, Aleksandra , Masingue, Marion , Malfatti, Edoardo , Stojkovic, Tanya and Villar-Quiles, Rocío Nur
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundMyosin 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 myopath...
Alternative Titles
Full title
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
Authors, Artists and Contributors
Author / Creator
Severa, Gianmarco
Kamoun, Emna
Bouhour, Françoise
Pegat, Antoine
Toutain, Annick
Lagrange, Emmeline
Duval, Fanny
Tard, Celine
De la Cruz, Elisa
Féasson, Léonard
Jacquin-Piques, Agnès
Richard, Pascale
Métay, Corinne
Cavalli, Michele
Romero, Norma Beatriz
Evangelista, Teresinha
Sole, Guilhem
Carlier, Robert Yves
Laforêt, Pascal
Acket, Blandine
Behin, Anthony
Fernández-Eulate, Gorka
Léonard-Louis, Sarah
Quijano-Roy, Susana
Pereon, Yann
Salort-Campana, Emmanuelle
Nadaj-Pakleza, Aleksandra
Masingue, Marion
Malfatti, Edoardo
Stojkovic, Tanya
Villar-Quiles, Rocío Nur
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_3120147430
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3120147430
Other Identifiers
ISSN
0022-3050,1468-330X
E-ISSN
1468-330X
DOI
10.1136/jnnp-2024-334263
