Article
Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.
Neuropediatrics - 1 Dec 2003
Darin N, Moslemi A-R, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M
Abstract excerpt
Cytochrome c oxidase (COX) deficiency has been associated with a wide spectrum of clinical features and may be caused by mutations in different genes of both the mitochondrial and the nuclear DNA. In an attempt to correlate the clinical phenotype with the genotype in 16 childhood cases, mtDNA was analysed for deletion, depletion, and mutations in the three genes encoding COX subunits and the 22 tRNA genes....
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