Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms

▶ We examine three patients with psychiatric and myopathic symptoms. ▶ Mitochondrial DNA deletions are identified in skeletal muscles in all patients. ▶ We perform mutation analysis of seven nuclear genes associated with mitochondrial DNA deletions. ▶ No mutations were identified in these nuclear genes. ▶ The deletion mutations of mitochondrial DNA may cause these patient's symptoms.