Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo

Myosin storage myopathy (MSM) is a congenital skeletal muscle disorder caused by missense mutations in the β-cardiac/slow skeletal muscle myosin heavy chain rod. It is characterized by subsarcolemmal accumulations of myosin that have a hyaline appearance. MSM mutations map near or within the assembl...

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Foilsithe in:Hum Mol Genet
Main Authors: Viswanathan, Meera C, Tham, Rick C, Kronert, William A, Sarsoza, Floyd, Trujillo, Adriana S, Cammarato, Anthony, Bernstein, Sanford I
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2017
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Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886249/
https://ncbi.nlm.nih.gov/pubmed/28973424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx359
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