MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

BACKGROUND: Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (A...

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Detalles Bibliográficos
Autores principales: Telese, Roberta, Pagliarani, Serena, Lerario, Alberto, Ciscato, Patrizia, Fagiolari, Gigliola, Cassandrini, Denise, Grimoldi, Nadia, Conte, Giorgio, Cinnante, Claudia, Santorelli, Filippo M., Comi, Giacomo P., Sciacco, Monica, Peverelli, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507101/
https://www.ncbi.nlm.nih.gov/pubmed/32578970
http://dx.doi.org/10.1002/mgg3.1320

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507101/
https://www.ncbi.nlm.nih.gov/pubmed/32578970
http://dx.doi.org/10.1002/mgg3.1320

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