机译:myL1中的双位异位突变导致严重的先天性肌病
Univ Western Australia Ctr Med Res Harry Perkins Inst Med Res Nedlands WA 6009 Australia;
Univ Coll London Great Ormond St Inst Child Hlth Dubowitz Neuromuscular Ctr London England;
Univ Modena &
Reggio Emilia Dept Life Sci Modena Italy;
Univ Modena &
Reggio Emilia Dept Life Sci Modena Italy;
Univ Modena &
Reggio Emilia Dept Chem &
Geol Sci Modena Italy;
Univ Modena &
Reggio Emilia Dept Chem &
Geol Sci Modena Italy;
Univ Coll London Great Ormond St Inst Child Hlth Dubowitz Neuromuscular Ctr London England;
Univ Coll London Great Ormond St Inst Child Hlth Dubowitz Neuromuscular Ctr London England;
Univ Modena &
Reggio Emilia Dept Chem &
Geol Sci Modena Italy;
Univ Western Australia Ctr Med Res Harry Perkins Inst Med Res Nedlands WA 6009 Australia;
Univ Western Australia Ctr Med Res Harry Perkins Inst Med Res Nedlands WA 6009 Australia;
Univ Coll London Great Ormond St Inst Child Hlth Dubowitz Neuromuscular Ctr London England;
Univ Coll London Great Ormond St Inst Child Hlth Dubowitz Neuromuscular Ctr London England;
Hacettepe Univ Pediat Pathol Unit Childrens Hosp TR-06100 Ankara Turkey;
Dr Sami Ulus Matern &
Childrens Res &
Training Ho Minist Hlth Dept Pediat Neurol Ankara Turkey;
St Georges Univ London Cardiovasc &
Cell Sci Inst Cranmer Terrace London SW17 0RE England;
Univ Western Australia Ctr Med Res Harry Perkins Inst Med Res Nedlands WA 6009 Australia;
Univ Western Australia Ctr Med Res Harry Perkins Inst Med Res Nedlands WA 6009 Australia;
Univ Coll London Great Ormond St Inst Child Hlth Dubowitz Neuromuscular Ctr London England;
机译:myL1中的双位异位突变导致严重的先天性肌病
机译:SCN4A的功能丧失突变导致严重的胎儿运动不足或“经典”先天性肌病
机译:重度先天性肾性肌病伴眼肌麻痹的患者中的RYR1隐性突变通过大规模平行测序鉴定。
机译:基因分析的一种新方法:基因面板和聚类定义,以协助先天性肌病的基因分型患者
机译:安德森三伐综合征治疗术后瘫痪的小鼠模型和新型NAV1.4突变术中的肌疗法突变功能研究
机译:不协调的突变体-45肌球蛋白伴侣B中的双等位基因突变是先天性肌病的原因
机译:未加价的突变体 - 45肌蛋白伴蛋白伴B的双位等位基因是先天性肌病的原因