Article
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
American journal of human genetics - 1 Dec 2005
Hudson Gavin, Keers Sharon, Yu-Wai-Man Patrick, Griffiths Philip, Huoponen Kirsi, Savontaus Marja-Liisa, Nikoskelainen Eeva, Zeviani Massimo, Carrara Franco, Horvath Rita, Karcagi Veronika, Spruijt Liesbeth, de Coo I F M, Smeets Hubert J M, Chinnery Patrick F
Abstract excerpt
Mitochondrial DNA (mtDNA) mutations are a major cause of human disease. A large number of different molecular defects ultimately compromise oxidative phosphorylation, but it is not clear why the same biochemical defect can cause diverse clinical phenotypes. There is emerging evidence that nuclear genes modulate the phenotype of primary mtDNA disorders. Here, we define an X-chromosomal haplotype that interacts...
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