Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Hakonen AH; Isohanni P; Paetau A; Herva R; Suomalainen A; Lönnqvist T; Brain: A Journal Of Neurology, 2007, vol. 130, issue Pt 11, p 3032, ISSN 14602156. ISBN 14602156.

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