LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
François-Guillaume Debray, Charles Morin, Annie Janvier, Josée Villeneuve, Bruno Maranda, Rachel Laframboise, Jacques Lacroix, Jean-Claude Decarie, Yves Robitaille, Marie Lambert, Brian H Robinson, Grant A Mitchell
Journal of Medical Genetics Mar 2011, 48 (3) 183-189; DOI: 10.1136/jmg.2010.081976