20. Mutations in MtDNA COX gene mutations Myopathy and myoglobinuria mtDNA deletions Recurrent myoglobinuria, exercise intolerance Mutations in mtDNA COX genes Sideroblastic Anemia Mutations in mtDNA COX genes Motor Neuron disease mtDNA mutations Pure Myopathy mtDNA mutations, rRNA mutations Cardiomyopathy (dilated/hypertrophic) Mutation in tRNA for serine Sensorineural hearing loss 1% to 2% of NIDDM is due to A3243G mutation. It may be the only manifestation or may have associated sensorineural deafness. NIDDM Additional Phenotypes