Article
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
Annals of neurology - 1 May 2000
Sue C M, Karadimas C, Checcarelli N, Tanji K, Papadopoulou L C, Pallotti F, Guo F L, Shanske S, Hirano M, De Vivo D C, Van Coster R, Kaplan P, Bonilla E, DiMauro S
Abstract excerpt
We screened 41 patients with undiagnosed encephalomyopathies and cytochrome c oxidase (COX) deficiency for mutations in two COX assembly genes, SURF-1 and SCO2; 6 patients had mutations in SURF-1 and 3 had mutations in SCO2. All of the mutations in SURF-1 were small-scale rearrangements (deletions/insertions); 3 patients were homozygotes and the other 3 were compound heterozygotes. All patients with SCO2...
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