Morán, MaríaBlázquez Encinar, AlbertoFiuza Luces, María del CarmenDíez Bermejo, JorgeDelmiro, AitorDocampo, JorgeSerrano Lorenzo, PabloGonzález Quintana, AdriánArenas, JoaquínLaín Hernández, A.Lucía Mulas, AlejandroDomínguez González, CristinaMartín, M.2017-01-192017-01-192016Morán, M., Blázquez, A., Fiuza-Luces, C., Díez-Bermejo, J., Delmiro, A., Docampo, J., ... & Lucía, A. (2016). Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene. Neuromuscular Disorders, 26, S174. DOI: 10.1016/j.nmd.2016.06.3210960-89661873-2364http://hdl.handle.net/11268/6181Mutations in the POLG gene, encoding the mitochondrial DNA (mtDNA) polymerase subunit gamma-1, have been identified in severe mtDNA depletion syndromes and mtDNA deletion disorders which include ataxia neuropathy spectrum disorders and AR and AD forms of progressive external ophthalmoplegia (PEO) and PEO-plus disorders. We report on a family with exercise intolerance. The proband was a 50-year-old man with severe muscle pain and premature fatigue after exercise of mild to moderate intensity. Serum CK ranged from 400 to 4500 U/L.engjournal article10.1016/j.nmd.2016.06.321open accessGenética humanaMitocondriasGenética humanaMutación