Article ID Journal Published Year Pages File Type
3080404 Neuromuscular Disorders 2007 4 Pages PDF
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.
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Life Sciences Neuroscience Developmental Neuroscience
Authors
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