Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080404 | Neuromuscular Disorders | 2007 | 4 Pages |
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.1071GÂ >Â C (p.R357P) mutation in the hot-spot linker region of the twinkle protein.
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Authors
Henry Rivera, Alberto Blázquez, Julián Carretero, José C. Alvarez-Cermeño, Y. Campos, Ana Cabello, Emiliano Gonzalez-Vioque, Belén Borstein, Rafael Garesse, JoaquÃn Arenas, Miguel A. MartÃn,