Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 10894222.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Leigh disease can be caused by defects of both nuclear and mitochondrially encoded genes. One mitochondrial DNA mutation, G14459A, has been associated with both respiratory chain complex I deficiency and Leber's hereditary optic neuropathy, with or without dystonia. Here, we report the occurrence of this mutation in 3 complex I-deficient patients from 2 separate pedigrees who presented with Leigh disease, with no evidence or family history of Leber's hereditary optic neuropathy or dystonia.
Medical subject headings
- DNA, Mitochondrial
- Leigh Disease