Emery-Dreifuss Muscular Dystrophy 1, X-Linked (EDMD1)

Alias:

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures

Edmd1

Emd1

X-Linked Emery-Dreifuss Muscular Dystrophy 1

X-Linked Emery-Dreifuss Muscular Dystrophy

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures

Muscular Dystrophy Tardive Dreifuss-Emery Type with Contractures

Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

Humeroperoneal Neuromuscular Disease, Formerly

Scapuloperoneal Syndrome, X-Linked, Formerly

Scapuloperoneal Syndrome, X-Linked

Scapuloperoneal Syndrome X-Linked

X-Edmd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Emery-Dreifuss Muscular Dystrophy 1, X-Linked, also known as muscular dystrophy, tardive, dreifuss-emery type, with contractures, is related to myopathy, x-linked, with postural muscle atrophy and first-degree atrioventricular block, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy 1, X-Linked is EMD (Emerin), 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 skeletal muscle atrophy and elevated circulating creatine kinase concentration

Related ID：

MALACARDS：EMR017

OMIM：310300

MESH：D020389