Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. |
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| Authors: | Robert McFarland Kim M Clark Andrew A M Morris Robert W Taylor Sheila Macphail Robert N Lightowlers Douglass M Turnbull |
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| Institution: | Departments of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK. |
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| 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. |
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