Medical Genetics Mutations(General) 3 Mutations account for 96% of cases All in Complex I genes Mutations:G11778A(69%),G3460A(13%), T14484C(14%) Mutation pattern Most patient's mutations are homoplasmic Some patients in each family may be heteroplasmicMedical Genetics Mutations (General) – 3 Mutations account for 96% of cases • All in Complex I genes • Mutations: G11778A (69%), G3460A (13%), T14484C (14%) – Mutation pattern • Most patient's mutations are homoplasmic • Some patients in each family may be heteroplasmic