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中文Myopathy, Myofibrillar, 1 (MFM1)
肌原纤维肌病1型(来自ICD-11)
别称:
Desmin-Related Myofibrillar Myopathy
Desmin-Related Myopathy
Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy
Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
Muscular Dystrophy, Limb-Girdle, Type 2r
Myopathy, Myofibrillar, Desmin-Related
Myofibrillar Myopathy 1
Desminopathy
Mfm1
Drm
Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d, Formerly
Myopathy, Myofibrillar, Type 1 (mfm-1, Limb-Girdle Muscular Dystrophy 1d
Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy
Dilated Cardiomyopathy 1f and Limb-Girdle Muscular Dystrophy Type 1d
Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly
Familial Arrhythmogenic Right Ventricular Dysplasia 7
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly
Arrhythmogenic Right Ventricular Cardiomyopathy 7
Autosomal Dominant Inclusion Body Myopathy 1
Dystrophy, Muscular, Limb-Girdle, Type 2r
Myopathy Myofibrillar Desmin-Related
Limb-Girdle Muscular Dystrophy 2r
Cmd1f and Lgmd1d, Formerly
Desmin Related Myopathy
Desminopathy, Primary
Desminopathy Primary
Mfm Desmin-Related
Lgmd2r, Formerly
Cmd1f and Lgmd1d
Arvd7, Formerly
Arvc7, Formerly
Cdcd3, Formerly
Ibm1, Formerly
Lgmd2r
Arvc7
Arvd7
Cdcd3
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肌病，肌原纤维，1型，也称为肌原纤维肌病，与扩张型心肌病1a型和先天性脊柱僵硬肌病3型有关，症状包括面部麻痹。与肌病，肌原纤维，1型相关的基因是DES（肌动蛋白），其相关通路/超级通路包括心脏传导和带状肌收缩通路。附属组织包括骨骼肌和心脏，相关表型为远端下肢肌无力和轴向肌无力。
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