Journal
NATURE GENETICS
Volume 30, Issue 2, Pages 145-146Publisher
NATURE AMERICA INC
DOI: 10.1038/ng819
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Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease(1). 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.
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