Article
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis - 1 Oct 2018
Pelnena Dita, Burnyte Birute, Jankevics Eriks, Lace Baiba, Dagyte Evelina, Grigalioniene Kristina, Utkus Algirdas, Krumina Zita, Rozentale Jolanta, Adomaitiene Irina, Stavusis Janis, Pliss Liana, Inashkina Inna
Abstract excerpt
The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by mutations in nuclear genes or mitochondrial DNA (mtDNA). In the present study, a novel and robust method of complete mtDNA sequencing, which allows amplification of the whole mitochondrial genome, was tested. Complete mtDNA sequencing was performed in a...
Topics
- Child, Preschool
- DNA, Mitochondrial
- Female
- Humans
- Infant
- Leigh Disease
- Male
- Mutation