Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

• Главные авторы: Xianghong Li (Автор), Liangshan Li (Автор), Yaqi Sun (Автор), Fuyan Lv (Автор), Guoqing Zhang (Автор), Wenmiao Liu (Автор), Meiyan Zhang (Автор), Hong Jiang (Автор), Shiguo Liu (Автор)
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• Опубликовано: BMC, 2019-08-01T00:00:00Z.
• Предметы: article
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Abstract Background Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogeneity. Therefore, it is very important to conduct molecular genetic anal...