Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
 

Learn about the flu shot, COVID-19 vaccine, and our masking policy »

Stanford Health Care

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect MOLECULAR GENETICS AND METABOLISM Wang, J., Kim, E., Dai, H., Stefans, V., Vogel, H., Al Jasmi, F., Vergano, S., Castro, D., Bernes, S., Bhambhani, V., Long, C., El-Hattab, A. W., Wong, L. 2018; 124 (2): 124–30

Abstract

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.

View details for PubMedID 29735374