Article
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
Archives of neurology - 1 Jan 2006
González-Vioque Emiliano, Blázquez Alberto, Fernández-Moreira Daniel, Bornstein Belén, Bautista Juan, Arpa Javier, Navarro Carmen, Campos Yolanda, Fernández-Moreno Miguel A, Garesse Rafael, Arenas Joaquin, Martín Miguel A
Abstract excerpt
BACKGROUND: Both dominant and recessive mutations were reported in the gene encoding the mitochondrial (mt) DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). Phenotypes other than PEO were recently documented in patients with mutations in the POLG gene. OBJECTIVE: To screen patients with mitochondrial disease and multiple mtDNA deletions in muscle for mutations in the coding...
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