DIABETES-MELLITUS IS ONE OF THE HETEROGENEOUS PHENOTYPIC FEATURES OF A MITOCHONDRIAL-DNA POINT MUTATION WITHIN THE TRANSFER-RNA LEU(UUR) GENE

Authors
GERBITZ KD PAPROTTA A JAKSCH M ZIERZ S DRECHSEL J
Citation
Kd. Gerbitz et al., DIABETES-MELLITUS IS ONE OF THE HETEROGENEOUS PHENOTYPIC FEATURES OF A MITOCHONDRIAL-DNA POINT MUTATION WITHIN THE TRANSFER-RNA LEU(UUR) GENE, FEBS letters, 321(2-3), 1993, pp. 194-196
Citations number
13
Categorie Soggetti
Biophysics,Biology
Journal title
FEBS letters → ACNP
ISSN journal
00145793
Volume
321
Issue
2-3
Year of publication
1993
Pages
194 - 196
Database
ISI
SICI code
0014-5793(1993)321:2-3<194:DIOOTH>2.0.ZU;2-K
Abstract
A heteroplasmic point mutation (transition A-to-G at nucleotide positi on 3,243 in the mitochondrial tRNA(Leu(UUR)) gene) is found in a famil y suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical features.