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De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.
Lou, Xiaoting; Zhou, Yuwei; Liu, Zhimei; Xie, Yaojun; Zhang, Luyi; Zhao, Suzhou; Gong, Shuai; Zhuo, Xiuwei; Wang, Junling; Dai, Lifang; Ren, Xiaotun; Tong, Xiao; Jiang, Liangliang; Fang, Hezhi; Fang, Fang; Lyu, Jianxin.
Afiliación
  • Lou X; Center for Reproductive Medicine, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang 310014, China; Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's H
  • Zhou Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
  • Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China.
  • Xie Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
  • Zhang L; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
  • Zhao S; Fujungenetics Technologies Co., Ltd, Beijing 100176, China.
  • Gong S; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China.
  • Zhuo X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China.
  • Wang J; Department of Pediatrics, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
  • Dai L; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China.
  • Ren X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China.
  • Tong X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China.
  • Jiang L; Pediatric Neurology, Anhui Provincial Children's Hospital, Hefei, Anhui 230022, China.
  • Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, College of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
  • Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China. Electronic address: fangfang@bch.com.cn.
  • Lyu J; Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang 310014, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical
Gene ; 860: 147229, 2023 Apr 15.
Article en En | MEDLINE | ID: mdl-36717040
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome MELAS / Enfermedades Mitocondriales Tipo de estudio: Etiology_studies / Guideline / Risk_factors_studies Límite: Humans Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome MELAS / Enfermedades Mitocondriales Tipo de estudio: Etiology_studies / Guideline / Risk_factors_studies Límite: Humans Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article