Article
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
Nature genetics - 1 Feb 2002
McFarland Robert, Clark Kim M, Morris Andrew A M, Taylor Robert W, Macphail Sheila, Lightowlers Robert N, Turnbull Douglass M
Abstract excerpt
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...
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