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Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene

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dc.contributor.author Morán, María
dc.contributor.author Blázquez, A.
dc.contributor.author Fiuza Luces, María del Carmen
dc.contributor.author Díez Bermejo, Jorge
dc.contributor.author Delmiro, Aitor
dc.contributor.author Docampo, J.
dc.contributor.author Serrano Lorenzo, Pablo
dc.contributor.author González Quintana, Adrián
dc.contributor.author Arenas, Joaquín
dc.contributor.author Laín Hernández, A.
dc.contributor.author Lucía Mulas, Alejandro
dc.contributor.author Domínguez González, C.
dc.contributor.author Martín, M.
dc.date.accessioned 2017-01-19T11:23:48Z
dc.date.available 2017-01-19T11:23:48Z
dc.date.issued 2016
dc.identifier.citation Morán, 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.2016.06.321 spa
dc.identifier.issn 09608966
dc.identifier.issn 18732364
dc.identifier.uri http://hdl.handle.net/11268/6181
dc.description.abstract Mutations 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. spa
dc.description.sponsorship SIN FINANCIACIÓN spa
dc.language.iso eng spa
dc.title Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene spa
dc.type article spa
dc.description.impact 2.969 JCR (2016) Q2, 72/194 Clinical Neurology, 124/259 Neurosciences spa
dc.identifier.doi 10.1016/j.nmd.2016.06.321
dc.rights.accessRights openAccess spa
dc.subject.uem Genética humana spa
dc.subject.uem Mitocondrias spa
dc.subject.unesco Genética humana spa
dc.subject.unesco Mutación spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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