title: Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
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.
authors.affiliation: Departments of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: McFarland
authors.forename: Kim M
authors.initials: KM
authors.lastname: Clark
authors.forename: Andrew A M
authors.initials: AA
authors.lastname: Morris
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.forename: Sheila
authors.initials: S
authors.lastname: Macphail
authors.forename: Robert N
authors.initials: RN
authors.lastname: Lightowlers
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000235:genetics; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial