. . . . . . . "[We report an interesting case of a T8993G mutation in the muscle mtDNA of a 2-year-old girl who presented with myoclonia, developmental delay, increased lactate concentration in CSF and cerebral MRI abnormalities without retinopathy, suggesting an atypical form of Leigh syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:46+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .