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

Molecular genetics and metabolism - 1 Jun 2018

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

Abstract excerpt

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...

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Identifiers

PMID: 29735374
DOI: 10.1016/j.ymgme.2018.04.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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