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机译:一种新型线粒体M.4414T> C MT-TM基因变体,导致进程外部眼镜术和肌病
MUMC Dept Clin Genet P Debyelaan 25 POB 5800 NL-6202 AZ Maastricht Netherlands;
Newcastle Upon Tyne Hosp NHS Fdn Trust Highly Specialised Mitochondrial Diagnost Lab Newcastle;
MUMC Dept Clin Genet P Debyelaan 25 POB 5800 NL-6202 AZ Maastricht Netherlands;
Newcastle Upon Tyne Hosp NHS Fdn Trust Highly Specialised Mitochondrial Diagnost Lab Newcastle;
Newcastle Upon Tyne Hosp NHS Fdn Trust Highly Specialised Mitochondrial Diagnost Lab Newcastle;
Newcastle Upon Tyne Hosp NHS Fdn Trust Highly Specialised Mitochondrial Diagnost Lab Newcastle;
Erasmus MC Dept Neurol Doctor Molewaterpl 40 NL-3015 GD Rotterdam Netherlands;
Maastricht Univ Dept Genet &
Cell Biol POB 616 NL-6200 MD Maastricht Netherlands;
Erasmus MC Dept Neurol Doctor Molewaterpl 40 NL-3015 GD Rotterdam Netherlands;
Newcastle Upon Tyne Hosp NHS Fdn Trust Highly Specialised Mitochondrial Diagnost Lab Newcastle;
Mitochondrial disease; Chronic progressive external ophthalmoplegia; Myopathy; mtDNA variant; m.4414Tgt; C; MTTM;
机译:一种新型线粒体M.4414T> C MT-TM基因变体,导致进程外部眼镜术和肌病
机译:一种新的线粒体tRNAGlu(MTTE)基因突变,导致肌肉中异质性水平低下的慢性进行性眼外肌麻痹。
机译:线粒体肌病和进展外部眼科动作与新型突变相关的M.5669g> A和M.5701Dela在MT-TN中
机译:线粒体转运蛋白SLC25A12基因突变与荷兰牧羊犬的炎症性肌病有关
机译:原发性渐进性失血病(PPA)内的异质性:功能性通信变体之间的差异,以及令人肺脑变异PPA的新次变体
机译:慢性不对称进行性右眼肌无力伴右脸无力:线粒体肌病的独特表现
机译:一种新型线粒体M.4414T> C MT-TM基因变体导致进步外部眼睑动脉杆菌和肌病