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

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

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          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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