Article
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
Journal of human genetics - 1 Dec 2011
Douglas Ganka V, Wiszniewska Joanna, Lipson Mark H, Witt David R, McDowell Taryn, Sifry-Platt Mara, Hirano Michio, Craigen William J, Wong Lee-Jun C
Abstract excerpt
Mitochondrial DNA (mtDNA) depletion syndrome encompasses a heterogeneous group of disorders characterized by a reduction in the mtDNA copy number. We identified two patients with clinical presentations consistent with mtDNA depletion syndrome (MDS), who were subsequently found to have apparently homozygous point mutations in TYMP and DGUOK, two of the nine nuclear genes commonly associated with these disorders....
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