" /> Myosclerosis, autosomal recessive - CISMeF





Preferred Label : Myosclerosis, autosomal recessive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, myosclerotic; Myosclerosis, congenital, of lowenthal;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen VI, alpha-2 gene (COL6A2, 120240.0011);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #255600;

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30/07/2025


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