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中文Muscular Dystrophy-Dystroglycanopathy , Type a, 6 (MDDGA6)
Alias:
Muscular Dystrophy-Dystroglycanopathy , Type A6
Mddga6
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Large-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A6
Muscle-Eye-Brain Disease Large-Related
Walker-Warburg Syndrome Large-Related
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肌营养不良-糖基化病，类型a，6，也称为肌营养不良-糖基化病，类型a6，与先天性肌营养不良-糖基化病类型a6有关。与肌营养不良-糖基化病，类型a，6有关的重要基因是LARGE1（LARGE Xylosyl- And Glucuronyltransferase 1）。附属组织包括眼睛和大脑，相关表型为全球发育延迟和血清肌酸激酶浓度升高。
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