" /> Congenital myopathy 7b, myosin storage, autosomal recessive - CISMeF





Preferred Label : Congenital myopathy 7b, myosin storage, autosomal recessive;

Symbol : CMYO7B;

CISMeF acronym : MSMB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, hyaline body, autosomal recessive; Myopathy, myosin storage, autosomal recessive; MSMB;

Description : Hyaline body myopathy is a rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type I muscle fibers. See also autosomal dominant hyaline body myopathy (608358).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin, heavy chain 7, cardiac muscle, beta gene (MYH7, 160760.0035);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #255160;

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04/05/2025


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