Article
Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.
Neuromuscular disorders : NMD - 1 Oct 2007
Rivera Henry, Blázquez Alberto, Carretero Julián, Alvarez-Cermeño José C, Campos Y, Cabello Ana, Gonzalez-Vioque Emiliano, Borstein Belén, Garesse Rafael, Arenas Joaquín, Martín Miguel A
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.