rs10186876 (Pcombined=9.75 × 10−11) lies 15 kb upstream of LRPPRC (leucine-rich pentacotripeptide-containing), which has been implicated in the French-Canadian variant of Leigh Syndrome (MIM: 220111), a cytochrome C oxidase deficiency with features including developmental delay, hypotonia and weakness29. The gene discussed is LRPPRC; the disease is Leigh syndrome.