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
Author:
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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