Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Saida Ortolano

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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

机译：肢带型肌营养不良症1F是由transportin 3基因的微小缺失引起的

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《Orphanet journal of rare diseases》 |2015年第s2期|共页
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Saida Ortolano;
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1. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene [J] . MeliàM.J., KubotaA., OrtolanoS., Brain: A journal of neurology . 2013,第5期

机译：肢带型肌营养不良症1F是由transportin 3基因的微小缺失引起的
2. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. [J] . Gundesli H, Talim B, Korkusuz P, The American Journal of Human Genetics . 2010,第6期

机译：PLEC外显子1f的突变会导致血凝素同工型1f的破坏，从而导致常染色体隐性肢带肌营养不良症。
3. INCOMPLETE PENETRANCE IN THE SPANISH FAMILY WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F [J] . Gamez Josep, Salvado Maria, Gratacos Margarita Muscle and Nerve . 2016,第1期

机译：1F肢带肌营养不良的西班牙家庭的渗透率不高
4. Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy [C] . Serguei Kozlov, Leslie Mounkes, Dedra Cutler, Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：小鼠LMNA基因中的突变导致普鲁比亚，肌肉营养不良和心肌病
5. Role of Mitochondria in Plasma Membrane Repair and Pathogenesis of Muscular Dystrophy [D] . Horn, Adam. 2018

机译：线粒体在肌营养不良的质膜修复和发病机制中的作用
6. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene [O] . Saida Ortolano 2015

机译：肢带型肌营养不良症1F是由transportin 3基因的微小缺失引起的
7. Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy [O] . Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, 2010

机译：PLEC外显子1f的突变导致Plectin亚型1f的破坏，导致常染色体隐性肢带腰肌营养不良

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

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