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中文Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (MDDGC5)
Alias:
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
Lgmd2i
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency
Limb-Girdle Muscular Dystrophy Type 2i
Mddgc5
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular Dystrophy, Limb-Girdle, Type 2i
Lgmd Due to Fkrp Deficiency
Fkrp-Related Lgmd R9
Lgmd Type 2i
Lgmdr9
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
Muscular Dystrophy-Dystroglycanopathy Type C 5
Dystrophy, Muscular, Dystroglycanopathy, Type C5
Muscular Dystrophy Limb-Girdle Type 2i
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肌肉萎缩性侧索硬化症-肌糖原病C型5，也称为常染色体隐性肢带型肌肉萎缩症2i，与肌肉萎缩性侧索硬化症-肌糖原病A型1和肌炎有关，症状包括肌肉痉挛、肌痛和鸭步。与肌肉萎缩性侧索硬化症-肌糖原病C型5有关的重要基因是FKRP（Fukutin相关蛋白），其相关通路/超级通路包括DREAM抑制和Dynorphin表达和粘蛋白的O-连接糖基化。在该疾病的背景下提到了药物Guaifenesin和Cathine。相关组织包括骨骼肌和舌，相关表型为血清肌酸激酶浓度升高和肌肉萎缩。
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