Article
Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.
Journal of the neurological sciences - 15 Mar 2015
Delgado-Alvarado Manuel, de la Riva Patricia, Jiménez-Urbieta Haritz, Gago Belén, Gabilondo Alazne, Bornstein Belén, Rodríguez-Oroz María Cruz
Abstract excerpt
Polymerase γ (POLG) is the enzyme responsible for the replication and maintenance of mitochondrial DNA (mtDNA). Mutations in the POLG1 gene can lead to mitochondrial dysfunction, producing a wide range of neurological and non-neurological phenotypes. Neurological manifestations include ataxia, muscular weakness, epilepsy, progressive external ophthalmoplegia (PEO), ptosis, neuropathy, psychiatric disorders and,...
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