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

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

Author information

1
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
DOI:
10.1038/ng819
[Indexed for MEDLINE]

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