publication . Article . 2016

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

M. Morán; A. Blázquez; C. Fiuza-Luces; J. Díez-Bermejo; A. Delmiro; J. Docampo; P. Serrano-Lorenzo; A. González-Quintana; J. Arenas; A. Laín-Hernández; ...
Open Access English
  • Published: 01 Jan 2016
  • Country: Ukraine
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. SIN FINANCIACIÓN 2.969 JCR (2016) Q2, 72/194 Clinical Neurology, 124/259 Neurosciences UEM
Subjects
Medical Subject Headings: macromolecular substances
free text keywords: Genética humana, Mitocondrias, Mutación, Mutation, medicine.disease_cause, medicine, Exercise intolerance, medicine.symptom, Diabetes mellitus, medicine.disease, Biology, Genetics, Gene
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publication . Article . 2016

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

M. Morán; A. Blázquez; C. Fiuza-Luces; J. Díez-Bermejo; A. Delmiro; J. Docampo; P. Serrano-Lorenzo; A. González-Quintana; J. Arenas; A. Laín-Hernández; ...