" /> Emery-dreifuss muscular dystrophy 2, autosomal dominant - CISMeF





Preferred Label : Emery-dreifuss muscular dystrophy 2, autosomal dominant;

Symbol : EDMD2;

CISMeF acronym : EDMD2; EMD2; LGMD1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Emery-dreifuss muscular dystrophy, autosomal dominant; Hauptmann-thannhauser muscular dystrophy; Muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; EMD2; Scapuloilioperoneal atrophy with cardiopathy; Muscular dystrophy, proximal, type 1b; Cardiomyopathy, dilated, with quadriceps myopathy; LGMD1B; Muscular dystrophy, limb-girdle, type 1b;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0001);

Laboratory abnormalities : Moderately increased serum creatine kinase;

Prefixed ID : #181350;

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03/05/2025


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