" /> Muscular dystrophy, limb-girdle, autosomal recessive 1 - CISMeF





Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 1;

Symbol : LGMDR1;

CISMeF acronym : LGMD2A; LGMD2; LGMDR1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2; Muscular dystrophy, pelvofemoral; Leyden-moebius muscular dystrophy; LGMD2; CALPAINOPATHY; Muscular dystrophy, limb-girdle, type 2a; LGMD2A;

Included titles and symbols : Myositis, eosinophilic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calpain 3 gene (CAPN3, 114240.0001);

Laboratory abnormalities : Elevated creatine kinase; Transient eosinophilia in first decade;

Prefixed ID : #253600;

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03/05/2025


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