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- Title
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
- Authors
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
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.
- Publication
Archives of neurology, 2006, Vol 63, Issue 1, p107
- ISSN
0003-9942
- Publication type
Journal Article
- DOI
10.1001/archneur.63.1.107