Article
Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.
Pediatric neurology - 1 Mar 1998
Fujii T, Hattori H, Higuchi Y, Tsuji M, Mitsuyoshi I
Abstract excerpt
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 mu...
Topics
- Child, Preschool
- Cytidine
- DNA, Mitochondrial
- Female
- Guanine
- Humans
- Leigh Disease
- Phenotype
- Point Mutation
- Thymidine