Chinese Journal of Practical Pediatrics

Chinese Journal of Practical Pediatrics ›› 2022, Vol. 37 ›› Issue (12): 952-955.DOI: 10.19538/j.ek2022120616

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One case report on mitochondrial complex V deficiency caused by TMEM70 gene novel compound heterozygous mutation

  

  • Online:2022-12-06 Published:2023-01-06

TMEM70基因新型复合杂合突变致线粒体呼吸链酶复合物V缺乏症1例报告

  

  1. 中国医科大学附属盛京医院临床遗传科，辽宁  沈阳  110004
  • 通讯作者: 刘晓亮，电子信箱：liuxl@sj-hospital.org

Key words: mitochondrial complex V deficiency, TMEM70 gene, electrolyte disorder, hypotonia

关键词: 线粒体复合体V缺乏症, TMEM70基因, 电解质紊乱, 肌张力低下