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

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.)

SUBMITTER: Alston CL 

PROVIDER: S-EPMC3854830 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature