title: Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.
abstract: This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8993 (T8993G), Leigh syndrome with T8993C was characterized by a significantly higher frequency of ataxia (P < 0.01). None of the reviewed T8993C-associated Leigh syndrome patients had retinitis pigmentosa, which is one of the characteristic findings in Leigh syndrome with T8993G. The milder symptoms of T8993C-Leigh syndrome can be explained by the milder complex V dysfunction; however, the higher frequency of ataxia in T8993C-Leigh syndrome requires more study.
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama-City, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: H
authors.initials: H
authors.lastname: Hattori
authors.forename: Y
authors.initials: Y
authors.lastname: Higuchi
authors.forename: M
authors.initials: M
authors.lastname: Tsuji
authors.forename: I
authors.initials: I
authors.lastname: Mitsuyoshi
mesh_terms: D002675:Child, Preschool; D003562:Cytidine; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006147:Guanine; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D013936:Thymidine
chemical_list: D004272:DNA, Mitochondrial; D003562:Cytidine; D006147:Guanine; D013936:Thymidine