Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Julia Wang, Emily Kim, Honzheng Dai, Vikki Stefans, Hannes Vogel, Fatma Al Jasmi, Samantha A. Schrier Vergano, Diana Castro, Saunder Bernes, Vikas Bhambhani, Catherine Long, Ayman W. El-Hattab, Lee Jun Wong

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)


Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagnosis when encountered with non-specific neuromuscular symptoms. Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of mitochondrial DNA maintenance defect. Since the first description in 2001, there have been 71 patients reported with 42 unique pathogenic variants. Here we are reporting 11 new cases with 5 novel pathogenic variants. We describe and analyze a total of 82 cases with 47 unique TK2 pathogenic variants in effort to formulate a comprehensive molecular and clinical spectrum of TK2-related mtDNA maintenance disorders.

Original languageEnglish
Pages (from-to)124-130
Number of pages7
JournalMolecular Genetics and Metabolism
Issue number2
Publication statusPublished - Jun 2018
Externally publishedYes


  • Adult-onset
  • Early-onset
  • Mitochondrial DNA maintenance syndrome
  • Thymidine kinase 2

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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