Maternally inherited Leigh syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 8095070.
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Abstract
A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.
Medical subject headings
- DNA, Mitochondrial
- Leigh Disease
- Point Mutation