Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Maternally inherited Leigh syndrome.
Journal of Pediatrics
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
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.
Adenosine Triphosphatases/genetics, Child, DNA, Mitochondrial/genetics, Female, Humans, Leigh Disease/genetics, Point Mutation/genetics, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length
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