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ENMuscular 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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Muscular Dystrophy-Dystroglycanopathy , Type a, 6, also known as muscular dystrophy-dystroglycanopathy , type a6, is related to congenital muscular dystrophy-dystroglycanopathy type a6. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1). Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and elevated circulating creatine kinase concentration
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