Emery-Dreifuss Muscular Dystrophy (EDMD)

Emery-Dreifuss Muscular Dystrophy(来自ICD-11)
别称:
Edmd
Muscular Dystrophy, Emery-Dreifuss
Emery-Dreifuss Syndrome
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
Emd - [emery-Dreifuss Muscular Dystrophy]
Muscular Dystrophy, Emery-Dreifuss Type
Dystrophy, Muscular, Emery-Dreifuss
Muscular Dystrophy Emery-Dreifuss
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Emery-Dreifuss Muscular Dystrophy, also known as edmd, is related to emery-dreifuss muscular dystrophy 3, autosomal recessive and x-linked emery-dreifuss muscular dystrophy. An important gene associated with Emery-Dreifuss Muscular Dystrophy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Separation of Sister Chromatids. The drugs Anesthetics and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are joint stiffness and myopathy
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相关ID:
MESH:D020389
ICD11:749295636

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
XLD
AD
AR
XL
Child
1-9/1000000
37
334
143

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靶点药物

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MGI
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