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

• Main Authors: Xianghong Li (Author), Liangshan Li (Author), Yaqi Sun (Author), Fuyan Lv (Author), Guoqing Zhang (Author), Wenmiao Liu (Author), Meiyan Zhang (Author), Hong Jiang (Author), Shiguo Liu (Author)
• Format: Book
• Published: BMC, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...