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dc.contributor.author | Morán, María | |
dc.contributor.author | Blázquez Encinar, Alberto | |
dc.contributor.author | Fiuza Luces, María del Carmen | |
dc.contributor.author | Díez Bermejo, Jorge | |
dc.contributor.author | Delmiro, Aitor | |
dc.contributor.author | Docampo, Jorge | |
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, Cristina | |
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 | 0960-8966 | |
dc.identifier.issn | 1873-2364 | |
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.description.impact | 1.421 SJR (2016) Q1, 69/380 Neurology (clinical), 32/313 Pediatrics, Perinatology and Child Health; Q2, 39/103 Genetics (clinical), 44/166 Neurology | spa |
dc.description.impact | No data IDR 2016 | 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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