TY - JOUR 
A1 - Morán, María
AU - Blázquez Encinar, Alberto
AU - Fiuza Luces, María del Carmen
AU - Díez Bermejo, Jorge
AU - Delmiro, Aitor
AU - Docampo, Jorge
AU - Serrano Lorenzo, Pablo
AU - González Quintana, Adrián
AU - Arenas, Joaquín
AU - Laín Hernández, A.
AU - Lucía Mulas, Alejandro
AU - Domínguez González, Cristina
AU - Martín, M.
T1 - Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene
Y1 - 2016
SN - 0960-8966

UR - http://hdl.handle.net/11268/6181
AB - 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.
KW - Genética humana
KW - Mitocondrias
KW - Genética humana
KW - Mutación
LA - eng
ER -