Article
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.
Brain : a journal of neurology - 1 May 2001
Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A
Abstract excerpt
Many different pathogenic mutations in the mitochondrial (mt) transfer RNA (tRNA) genes have been reported for patients with mitochondrial encephalomyopathy. Although some of them are recurrent, most have only been described once and appear to be restricted to one patient or to one family. The incidence of mt tRNA gene alterations is not known, even though the frequency of some recurrent mutations has been...
Topics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Genetic Heterogeneity
- Genetic Testing
- Genetic Variation
- Haplotypes
- Humans