Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

ABSTRACT: Mitochondrial disease can be attributed to both mitochondrial and nuclear gene mutations. It has a heterogeneous clinical and biochemical profile, which is compounded by the diversity of the genetic background. Disease-based epidemiological information has expanded significantly in recent decades, but little information is known that clarifies the aetiology in African patients. The aim of this study was to investigate mitochondrial DNA variation and pathogenic mutations in the muscle of diagnosed paediatric patients from South Africa. A cohort of 71 South African paediatric patients was included and a high-throughput nucleotide sequencing approach was used to sequence full-length muscle mtDNA. The average coverage of the mtDNA genome was 81±26 per position. After assigning haplogroups, it

SUBMITTER: van der Walt EM 

PROVIDER: S-EPMC3355259 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature