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ENMuscular Dystrophy-Dystroglycanopathy , Type a, 14 (MDDGA14)
Alias:
Muscular Dystrophy-Dystroglycanopathy , Type A14
Mddga14
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A14
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Gmppb-Related
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gmppb-Related
Dystrophy, Muscular, Dystroglycanopathy , Type A14
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Muscular Dystrophy-Dystroglycanopathy , Type a, 14, also known as muscular dystrophy-dystroglycanopathy , type a14, is related to congenital muscular dystrophy-dystroglycanopathy a14 and muscular dystrophy-dystroglycanopathy , type b, 14, and has symptoms including ataxia and muscle weakness. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B). Affiliated tissues include eye and brain, and related phenotypes are muscle weakness and elevated circulating creatine kinase concentration
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