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

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

Abstract 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 dom...

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Bibliographic Details
Main Authors: Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
MYH2
myosin heavy chain myopathy
ophthalmoplegia
rimmed vacuoles
Online Access:https://doi.org/10.1002/mgg3.1320

Internet

https://doi.org/10.1002/mgg3.1320

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