ePrints

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Lookup NU author(s): Professor Bobby McFarlandORCiD, Kim Clark, Dr Andrew Morris, Professor Robert Taylor, Dr Sheila MacPhail, Professor Robert Lightowlers, Emeritus Professor Doug Turnbull

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

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.

Publication metadata

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

Year: 2002

Volume: 30

Issue: 2

Pages: 145-146

ISSN (print): 1061-4036

ISSN (electronic):

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ng819

DOI: 10.1038/ng819

PubMed id: 11799391

Altmetrics

Share