Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness

Many mutations in the skeletal muscle α-actin gene (ACTA1) lead to muscle weakness and nemaline myopathy. Despite increasing clinical and scientific interest, the molecular and cellular pathogenesis of weakness remains unclear. Therefore, in the present study, we aimed at unraveling these mechanisms...

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Bibliografiske detaljer
Main Authors: Ochala, Julien, Ravenscroft, Gianina, Laing, Nigel G., Nowak, Kristen J.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2012
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3447773/
https://ncbi.nlm.nih.gov/pubmed/23029319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0045923
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