" /> Muscular dystrophy, limb-girdle, autosomal recessive 8 - CISMeF





Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 8;

Symbol : LGMDR8;

CISMeF acronym : LGMD2H; LGMDR8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, hutterite type; Sarcotubular myopathy; LGMD2H; Muscular dystrophy, limb-girdle, type 2h;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripartite motif-containing protein 32 gene (TRIM32, 602290.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #254110;

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03/05/2025


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