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A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members

机译：一种新的Dok7突变，导致先天性肌腱综合征，肢体腰带弱点：案例系列三个家庭成员

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Mohammed S. Alsallum; Aysha Alshareef; Ahmad R. Abuzinadah; Ahmed K. Bamaga; Ashraf Dallol;
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年度 2021
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1. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness [J] . Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia . 2020,第期

机译：先天性染发剂综合征由于“未解释”肢体肌肉弱点的患者队列中的Dok7突变
2. Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile [J] . Jorge A. Bevilacqua, Marian Lara, Jorge D?-az, European Journal of Translational Myology . 2017,第3期

机译：来自智利一个家庭的DOK7突变导致的先天性肌无力综合症
3. DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy [J] . MahjnehI., LochmüllerH., MuntoniF., Neuromuscular disorders: NMD . 2013,第1期

机译：DOK7模仿先天性肌营养不良的肢带肌无力综合征
4. DOK7 congenital myasthenic syndrome [C] . Jacqueline Palace International Conference on Myasthenia Gravis and Related Disorders . 2012

机译：Dok7先天性肌炎综合征
5. Investigation of Molecular Mechanisms Causing Peters Plus Syndrome and Congenital Disorders with Overlapping Phenotypes [D] . Zhang, Ao. 2021

机译：对Peters Plus综合征和先天性障碍的分子机制调查重叠表型
6. Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile [O] . Jorge A. Bevilacqua, Marian Lara, Jorge Díaz, 2017

机译：来自智利一个家庭的DOK7突变导致的先天性肌无力综合征
7. Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile [O] . Jorge A. Bevilacqua, Marian Lara, Jorge Díaz, 2017

机译：由智利家族中的DOK7突变引起的先天性肌无力综合症

A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members

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