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中文Muscular Dystrophy, Congenital, Davignon-Chauveau Type (MDCDC)
Alias:
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Mdcdc
Congenital Muscular Dystrophy, Davignon-Chauveau Type
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肌营养不良症，先天性，戴维翁-肖瓦尔型，也被称为先天性肌营养不良症-呼吸衰竭-皮肤异常-关节过度松弛综合症。与肌营养不良症，先天性，戴维翁-肖瓦尔型相关的基因是TRIP4（甲状腺激素受体相互作用蛋白4）。相关组织包括皮肤和骨骼肌，相关表型是emg：肌病异常和由于肌肉无力导致的呼吸不足
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MALACARDS
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