Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

Autosomal dominant PEO is associated with mutations in a number of nuclear genes affecting the intergenomic communication with mitochondrial DNA. We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel c.1071G > C (p.R357P) mutation in the hot-spot linker region of the twinkle protein. © 2007.This study was supported by grants from Instituto de Salud Carlos III (ISCIII) (Fondo de Investigación Sanitaria) PI030224, and PI060547 to M.A.M., and PI030283 to Y.C., and from Fundacion Mutua Madrileña FMM 2005-069 to M.A.M. Henry Rivera is supported by Grants from FIS, PI030224, and PI060547. M.A.M. is supported by Programa de Intensificacion de la Actividad Investigadora, ISCIII (MSC) and Agencia Lain Entralgo (CSC, Comunidad de Madrid).Peer Reviewe