Article
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Journal of medical genetics - 1 Mar 2011
Debray François-Guillaume, Morin Charles, Janvier Annie, Villeneuve Josée, Maranda Bruno, Laframboise Rachel, Lacroix Jacques, Decarie Jean-Claude, Robitaille Yves, Lambert Marie, Robinson Brian H, Mitchell Grant A
Abstract excerpt
BACKGROUND: The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. RESULTS: 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8)....
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