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中文Muscular Dystrophy-Dystroglycanopathy , Type C, 9 (MDDGC9)
Alias:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Lgmd2p
Mddgc9
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16
Lgmdr16
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9
Muscular Dystrophy-Dystroglycanopathy Type C9
Dystrophy, Muscular, Limb-Girdle, Type 2p
Muscular Dystrophy, Limb-Girdle, Type 2p
Limb-Girdle Muscular Dystrophy Type 2p
Muscular Dystrophy Limb-Girdle Type 2p
Alpha-Dystroglycan-Related Lgmd R16
Lgmd Type 2p
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肌营养不良-糖基化蛋白病C型9，也称为常染色体隐性肢带型肌营养不良2p，与肌营养不良-糖基化蛋白病C型1和肢带型肌营养不良1h有关。与肌营养不良-糖基化蛋白病C型9有关的重要基因是DAG1（糖基化蛋白1），其相关通路/超级通路包括急性病毒性心肌炎和13q12.12拷贝数变异。相关组织包括大脑和骨骼肌，相关表型为血清肌酸激酶浓度升高和肢带型肌营养不良。
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