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中文Muscular Dystrophy-Dystroglycanopathy , Type B, 4 (MDDGB4)
Alias:
Mddgb4
Muscular Dystrophy-Dystroglycanopathy , Type B4
Muscular Dystrophy-Dystroglycanopathy Type B4
Muscular Dystrophy-Dystroglycanopathy Congenital Without Impaired Intellectual Development B4
Dystrophy, Muscular, Dystroglycanopathy , Type B4
Muscular Dystrophy, Congenital, Fktn-Related
Congenital Muscular Dystrophy Fktn-Related
Muscular Dystrophy Congenital Fktn-Related
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肌营养不良-粘连蛋白病B型4，也称为mddgb4，与先天性肌营养不良-粘连蛋白病A7和先天性肌病10a的严重变异有关。与肌营养不良-粘连蛋白病B型4相关的基因是FKTN（Fukutin），其相关通路/超通路包括粘蛋白的O-连接糖基化和缺陷的DPM3导致DPM3-CDG。相关组织包括大脑，相关表型为血清肌酸激酶浓度升高和运动延迟。
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