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

Emery-Dreifuss Muscular Dystrophy 1, X-Linked(来自ICD-11)

别称:

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

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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

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