Nat Genet. 2002 Feb;30(2):145-6. Epub 2002 Jan 22.

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM.

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Departments of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.

Abstract

Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease. 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.

PMID:: 11799391; [PubMed - indexed for MEDLINE]

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