Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome
- 2 July 2019
- journal article
- research article
- Published by Elsevier BV in Clinica Chimica Acta; International Journal of Clinical Chemistry
- Vol. 496, 93-99
- https://doi.org/10.1016/j.cca.2019.06.028
Abstract
No abstract availableKeywords
This publication has 45 references indexed in Scilit:
- Global developmental delay and intellectual disability associated with a de novo TOP2B mutationClinica Chimica Acta; International Journal of Clinical Chemistry, 2017
- Mitochondrial DNA maintenance defectsBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2017
- MtDNA‐maintenance defects: syndromes and genesJournal of Inherited Metabolic Disease, 2017
- Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsyClinica Chimica Acta; International Journal of Clinical Chemistry, 2015
- Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic OptionsNeurotherapeutics, 2013
- Clinical Spectrum of Mitochondrial DNA Depletion Due to Mutations in the Thymidine Kinase 2 GeneArchives of Neurology, 2006
- Inherited Mitochondrial DNA DepletionPediatric Research, 2003
- Late‐onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensationAnnals of Neurology, 2001
- Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosisJournal of Hepatology, 1999
- Clinical manifestations of mitochondria1 DNA depletionNeurology, 1998