Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene
- 26 April 1993
- journal article
- case report
- Published by Wiley in FEBS Letters
- Vol. 321 (2-3), 194-196
- https://doi.org/10.1016/0014-5793(93)80106-5
Abstract
A heteroplasmic point mutation (transition A-to-G at nucleotide position 3,243 in the mitochondrial tRNALeu(UUR) gene) is found in a family suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical featuresKeywords
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