Article
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.
Neurology - 3 Dec 2013
Alston Charlotte L, Schaefer Andrew M, Raman Pravrutha, Solaroli Nicola, Krishnan Kim J, Blakely Emma L, He Langping, Craig Kate, Roberts Mark, Vyas Aashish, Nixon John, Horvath Rita, Turnbull Douglass M, Karlsson Anna, Gorman Grainne S, Taylor Robert W
Abstract excerpt
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.)
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