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中文Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 (LGMDR4)
Alias:
Lgmd2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
Muscular Dystrophy, Limb-Girdle, Type 2e
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Lgmd Due to Beta-Sarcoglycan Deficiency
Limb-Girdle Muscular Dystrophy Type 2e
Beta-Sarcoglycan-Related Lgmd R4
Beta-Sarcoglycanopathy
Lgmd Type 2e
Lgmdr4
Dystrophy, Muscular, Limb-Girdle, Type 2e
Limb-Girdle Muscular Dystrophy 2e
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肌营养不良症，肢带型，常染色体隐性遗传4型，也称为lgmd2e，与beta-肌原蛋白的质或量缺陷有关，肢带型，常染色体隐性遗传1型。与肌营养不良症，肢带型，常染色体隐性遗传4型有关的重要基因是SGCB（肌原蛋白β），其相关通路/超通路包括DREAM抑制和杜氏病毒性心肌炎。附属组织包括骨骼肌和心脏，相关表型包括语言发育延迟和肌病。
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