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-Reference-Cited by-同舟云学术

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

Published:2019-08-27 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Li Xianghong,Li Liangshan,Sun Yaqi,Lv Fuyan,Zhang Guoqing,Liu Wenmiao,Zhang Meiyan,Jiang Hong^ORCID,Liu Shiguo

Funder

National Key Research and Development Program of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-019-0875-y.pdf

Reference26 articles.

1. Copeland WC. Defects of mitochondrial DNA replication. J Child Neurol. 2014;29(9):1216–24.

2. LJ W. Molecular genetics of mitochondrial disorders. Developmental disabilities research reviews. 2010;16(2):154–62.

3. C V MZ. MtDNA-maintenance defects: syndromes and genes. J Inherit Metab Dis. 2017;40(4):587–99.

4. Finsterer J, Zarrouk-Mahjoub S. TK2-related Myopathic mitochondrial depletion syndrome. Pediatr Dev Pathol. 2018;21(5):507–8.

5. A B, L M, V S, JP J, E S, S A, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007;39(6):776–80.

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