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中文Myopathy, Myofibrillar, 3 (MFM3)
Alias:
Spheroid Body Myopathy
Myotilinopathy
Myofibrillar Myopathy 3
Lgmd1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Muscular Dystrophy, Limb-Girdle, Type 1a
Limb-Girdle Muscular Dystrophy Due to Myotilin Deficiency
Myopathy, Spheroid Body
Mfm3
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly
Qualitative or Quantitative Defects of Myotilin
Dystrophy, Muscular, Limb-Girdle, Type 1a
Myopathy, Myofibrillar, Myotilin-Related
Muscular Dystrophy, Limb-Girdle, Type 1
Myopathy Myofibrillar Myotylin-Related
Limb-Girdle Muscular Dystrophy 1a
Myopathy, Myofibrillar, Type 3
Distal Myotilinopathy
Mfm Myotilin-Related
Lgmd1a, Formerly
Lgmd1, Formerly
Lgmd 1a
Lgmd1
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肌病，肌原纤维型3，也称为球状体肌病，与先天性肌病1a和非aka肌病有关，症状包括鸭步。与肌病，肌原纤维型3有关的重要基因是MYOT（肌动蛋白），其相关通路/超级通路包括心脏传导和有条纹肌肉收缩通路。附属组织包括骨骼肌和心脏，相关表型为骨盆带肌肉无力和周围神经病变。
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