Article
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation - 1 Feb 2008
Dimmock D P, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang L-Y, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli F M, Ficicioglu C H, Rodriguez M, Wierenga K, Enns G M, Longo N, Lipson M H, Vallance H, Craigen W J, Scaglia F, Wong L-J
Abstract excerpt
Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we have identified 15 different mutations in the DGUOK gene from 9 kindreds. Among them, 12 have not previously been reported. Nonsense, splice site, or frame-shift mutations that produce truncated proteins predominate...
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