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中文Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (MDDGA7)
Alias:
Mddga7
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Ispd-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A7
Muscle-Eye-Brain Disease Ispd-Related
Walker-Warburg Syndrome Ispd-Related
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肌营养不良-肌糖原病a型7，也称为mddga7，与先天性肌营养不良-肌糖原病a7和肌营养不良-肌糖原病有关。与肌营养不良-肌糖原病a型7相关的重要的基因是CRPPA（CDP-L-核酮糖焦磷酸酶A）。相关组织包括眼睛和大脑，相关表型为脑积水和血清肌酸激酶浓度升高。
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