Dataset Information

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

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Publications

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

Alston Charlotte L CL Schaefer Andrew M AM Raman Pravrutha P Solaroli Nicola N Krishnan Kim J KJ Blakely Emma L EL He Langping L Craig Kate K Roberts Mark M Vyas Aashish A Nixon John J Horvath Rita R Turnbull Douglass M DM Karlsson Anna A Gorman Grainne S GS Taylor Robert W RW

Neurology 20131106 23

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.) ...[more]

PMID: 24198295

Dataset Information

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

Publications

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

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