Article

The association of the Arg1277Gln mutation in the MYH7 gene with myosin storage myopathy in a Chinese family

2020-01-02

Abstract excerpt

<title>Abstract</title> <p>Background Myosin storage myopathy (MSM) is caused by missense mutations in the MYH7 gene, which encodes the β-cardiac/slow skeletal muscle myosin heavy chain rod (MyHCI). MSM is an autosomal dominant/recessive myopathy characterized by subsarcolemmal accumulations of myosin in type I muscle fibers that results in weakness of the scapula, limb and distal muscles.Methods Here, we report...

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Literature Corpus work: 8ad0da34-57e4-5e65-912d-821ab80602e1
DOI: 10.21203/rs.2.19928/v1

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