Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational
Official Title: Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan
Brief Summary: Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases. Syndromes associated with this mutation include mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fibers (MERRF), and chronic progressive external ophthalmoplegia (CPEO). Clinical analyses of mitochondrial DNA nt3243A>G mutation from Taiwan remain scarce. The present study aims to investigate the clinical features and prognostic factors of patients with mt3243A>G mutation in Taiwan.