" /> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 - CISMeF





Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14;

Symbol : MDDGC14;

CISMeF acronym : LGMD2T; MDDGC14; LGMDR19;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related; LGMD2T; Muscular dystrophy, limb-girdle, type 2t; LGMDR19; Muscular dystrophy, limb-girdle, autosomal recessive 19;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GDP-mannose pyrophosphorylase B gene (GMPPB, 615320.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615352;

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28/07/2025


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