. . . . . . . "[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 (p.R357P) mutation in the hot-spot linker region of the twinkle protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:18:42+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .