Lookup NU author(s): Professor Bobby McFarland,
Dr Andrew Morris,
Professor Robert Taylor,
Dr Sheila MacPhail,
Professor Robert Lightowlers,
Professor Doug Turnbull
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Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease1. We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.
Author(s): Lightowlers RN; McFarland R; Taylor RW; Clark KM; Morris AAM; Macphail S; Turnbull DM
Publication type: Article
Publication status: Published
Journal: Nature Genetics
ISSN (print): 1061-4036
Publisher: Nature Publishing Group
PubMed id: 11799391
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