Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
- PMID: 30283818
- PMCID: PMC6167180
- DOI: 10.1212/NXG.0000000000000269
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
Figures

References
-
- Freisinger P, Fütterer N, Lankes E, et al. . Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 2006;63:1129–1134. - PubMed
-
- Buchaklian AH, Helbling D, Ware SM, Dimmock DP. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. Mol Genet Metab 2012;107:92–94. - PubMed
-
- Dimmock D, Zhang Q, Dionisi-Vici C, et al. . Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008;29:330–331. - PubMed
LinkOut - more resources
Full Text Sources