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Members of the first family had variable clinical features of progressive ataxic\u2010myoclonic encephalomyopathy and of the other family, primarily adult\u2010onset myiopathy. There was a point mutation from A to G at uncleotide pair 8344 located in the tRNA<jats:sup>Lys<\/jats:sup> gene of the tmDNA of all patients tested, three in family 1, and the mother of Family 2.This clinical heterogeneity may reflect the effects of varying proportions of mutant and wild\u2010type mt DNA in the different organ systems in each individual.<\/jats:p>","DOI":"10.1002\/ana.410330613","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:48:17Z","timestamp":1104540497000},"page":"640-645","source":"Crossref","is-referenced-by-count":23,"title":["Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged\u2010red fiber disease point mutation in mitochondrial DNA"],"prefix":"10.1002","volume":"33","author":[{"given":"W. 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