Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA
Archives of neurology (2006), Volume 63, Page 107
PubMed entry Publisher's site

Abstract:

Both dominant and recessive mutations were reported in the gene ...
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.

Polymerases:

Human Pol gamma A467T,Human Pol gamma P587L,Human Pol gamma M603L,Human Pol gamma R853W,Human Pol gamma T251I,Human Pol gamma G268A,Human Pol gamma R1146C,Human Pol gamma D1184N

Topics:

Status:

new topics/pols set partial results complete validated

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Version:20241007

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