" /> Muscular dystrophy, limb-girdle, autosomal recessive 4 - CISMeF





Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 4;

Symbol : LGMDR4;

CISMeF acronym : LGMD2E; LGMDR4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2E; Muscular dystrophy, limb-girdle, type 2e;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-sarcoglycan gene (SGCB, 600900.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #604286;

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03/05/2025


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