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Article

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Proceedings of the National Academy of Sciences of the United States of America - 14 Apr 2009

Armel Thomas Z, Leinwand Leslie A

Abstract excerpt

Myosin storage myopathy (MSM) is a congenital myopathy characterized by the presence of subsarcolemmal inclusions of myosin in the majority of type I muscle fibers, and has been linked to 4 mutations in the slow/cardiac muscle myosin, beta-MyHC (MYH7). Although the majority of the >230 disease causing mutations in MYH7 are located in the globular head region of the molecule, those responsible for MSM are part of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19336582
DOI: 10.1073/pnas.0900107106
PMCID: PMC2669361

Genes

MYH7

Provenance

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