title: 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.)
authors.affiliation: From Newcastle University (C.L.A., A.M.S., P.R., K.J.K., E.L.B., L.H., K.C., R.H., D.M.T., G.S.G., R.W.T.), Newcastle upon Tyne, UK; Karolinska Institute (N.S., A.K.), Stockholm, Sweden; Hope Hospital (M.R.), Salford; and Royal Preston Hospital (A.V., J.N.), Preston, UK.
authors.forename: Charlotte L
authors.initials: CL
authors.lastname: Alston
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Schaefer
authors.forename: Pravrutha
authors.initials: P
authors.lastname: Raman
authors.forename: Nicola
authors.initials: N
authors.lastname: Solaroli
authors.forename: Kim J
authors.initials: KJ
authors.lastname: Krishnan
authors.forename: Emma L
authors.initials: EL
authors.lastname: Blakely
authors.forename: Langping
authors.initials: L
authors.lastname: He
authors.forename: Kate
authors.initials: K
authors.lastname: Craig
authors.forename: Mark
authors.initials: M
authors.lastname: Roberts
authors.forename: Aashish
authors.initials: A
authors.lastname: Vyas
authors.forename: John
authors.initials: J
authors.lastname: Nixon
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Anna
authors.initials: A
authors.lastname: Karlsson
authors.forename: Grainne S
authors.initials: GS
authors.lastname: Gorman
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000367:Age Factors; D000368:Aged; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000235:genetics*; D013937:Thymidine Kinase / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; C105339:thymidine kinase 2; D013937:Thymidine Kinase