Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy

Mitochondrial tRNA genes, as hotspots for mutations, accounted for 50% of MM in this cohort of patients. Patients associated with the m.8344A > G mutation were prone to laryngopharyngeal muscle involvement. The prognosis in our patients is relatively benign except one patient with the m.3302A > G mutation.