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

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

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...

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Bibliographic Details
Main Authors: Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Medical Genetics
Subjects:
Hepatocerebral form of MDS
TWNK
Whole exome sequencing (WES)
Sanger sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-019-0875-y

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