Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
- 22 January 2002
- journal article
- case report
- Published by Springer Nature in Nature Genetics
- Vol. 30 (2) , 145-146
- https://doi.org/10.1038/ng819
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.Keywords
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