Mitochondrial tRNALeu(UUR) gene nt 3242 A-->G mutation should be considered in diabetic patients with the above-mentioned clinical features. The genetic diagnosis in daily clinical practice can be performed with allele specific priming amplification, or PCR/Hae III or Apa I digestion which are technically simple to perform and diagnostically easy to define.
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This record was last updated on 07/02/2016 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/9594306