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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肌营养不良症2型，常染色体显性，也称为肌营养不良症2型，常染色体显性，与肌营养不良症7型，常染色体显性和肌营养不良症5型，常染色体显性有关。Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 关联的重要基因是 LMNA (Lamin A/C)，其相关通路/超通路包括细胞周期、有丝分裂和姐妹染色体分离。相关组织包括骨骼肌和心脏，相关表型包括关节僵硬和肌病。

Related ID：

MALACARDS：EMR018

OMIM：181350

MESH：D020389