A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

标题
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy
作者
关键词
MT-ATP6, ATP synthase, Mitochondrial disease, Mitochondrial DNA (mtDNA), Complex V deficiency
出版物
European Journal of Medical Genetics
Volume 60, Issue 6, Pages 345-351
出版商
Elsevier BV
发表日期
2017-04-13
DOI
10.1016/j.ejmg.2017.04.006

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