Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant (EDMD2)

Alias:

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy with Cardiopathy

Hauptmann-Thannhauser Muscular Dystrophy

Edmd2

Emd2

Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Cardiomyopathy, Dilated, with Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Muscular Dystrophy, Limb-Girdle, Type 1b

Lgmd1b

Muscular Dystrophy with Early Contractures and Cardiomyopathy Autosomal Dominant

Benign Scapuloperoneal Muscular Dystrophy with Cardiomyopathy

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Dystrophy, Muscular, Emery-Dreifuss, Type 2

Muscular Dystrophy, Proximal, Type 1b

Limb-Girdle Muscular Dystrophy 1b

Lgmd1b, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant, also known as emery-dreifuss muscular dystrophy, autosomal dominant, is related to emery-dreifuss muscular dystrophy 7, autosomal dominant and emery-dreifuss muscular dystrophy 5, autosomal dominant. An important gene associated with Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Separation of Sister Chromatids. Affiliated tissues include skeletal muscle and heart, and related phenotypes are joint stiffness and myopathy

Related ID：

MALACARDS：EMR018

OMIM：181350

MESH：D020389