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
This publication has 13 references indexed in Scilit:
- Chapter 5 Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissuesMethods in Cell Biology, 2001
- The epidemiology of pathogenic mitochondrial DNA mutationsAnnals of Neurology, 2000
- Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patientsHuman Molecular Genetics, 2000
- Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNANature Genetics, 1999
- Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA Ser(UCN) geneNeurology, 1999
- Reversal of a mitochondrial DNA defect in human skeletal muscleNature Genetics, 1997
- Functional and Molecular Mitochondrial Abnormalities Associated with a C → T Transition at Position 3256 of the Human Mitochondrial GenomePublished by Elsevier ,1996
- Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessNature Genetics, 1993
- Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applicationsAnnals of Neurology, 1993
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988