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

Henry Rivera; Alberto Blázquez; Julián Carretero; José C Alvarez-Cermeño; Y Campos; Ana Cabello; Emiliano Gonzalez-Vioque; Belén Borstein; Rafael Garesse; Joaquín Arenas; Miguel A Martín

doi:10.1016/j.nmd.2007.05.006

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

Neuromuscul Disord. 2007 Oct;17(9-10):677-80. doi: 10.1016/j.nmd.2007.05.006. Epub 2007 Jul 5.

Authors

Henry Rivera¹, Alberto Blázquez, Julián Carretero, José C Alvarez-Cermeño, Y Campos, Ana Cabello, Emiliano Gonzalez-Vioque, Belén Borstein, Rafael Garesse, Joaquín Arenas, Miguel A Martín

Affiliation

¹ Centro de Investigación, Hospital Universitario 12 de Octubre, Av. de Córdoba s/n, 28041 Madrid, Spain.

PMID: 17614277
DOI: 10.1016/j.nmd.2007.05.006

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Arginine / genetics
DNA Helicases / genetics*
DNA, Mitochondrial / genetics*
Family Health
Female
Humans
Mitochondrial Proteins
Mutation / genetics*
Ophthalmoplegia, Chronic Progressive External / genetics*
Phenotype
Proline / genetics
Spain

Substances

DNA, Mitochondrial
Mitochondrial Proteins
Arginine
Proline
DNA Helicases
TWNK protein, human