Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Neurology. 2013 Dec 3;81(23):2051-3. doi: 10.1212/01.wnl.0000436931.94291.e6. Epub 2013 Nov 6.

Abstract

Mutations in nuclear genes involved in the maintenance of mitochondrial DNA (mtDNA) are associated with an extensive spectrum of clinical phenotypes, manifesting as either mtDNA depletion syndromes or multiple mtDNA deletion disorders.(1.)

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Aged
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Mutation / genetics*
  • Respiratory Insufficiency / diagnosis*
  • Respiratory Insufficiency / genetics*
  • Thymidine Kinase / genetics*

Substances

  • DNA, Mitochondrial
  • thymidine kinase 2
  • Thymidine Kinase