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Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNA Leu(UUR) gene
Author(s) -
Gerbitz K.-D.,
Paprotta A.,
Jaksch M.,
Zierz S.,
Drechsel J.
Publication year - 1993
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(93)80106-5
Subject(s) - heteroplasmy , mitochondrial dna , point mutation , transfer rna , genetics , gene , mutation , biology , transition (genetics) , melas syndrome , mitochondrial myopathy , rna
A heteroplasmic point mutation (transition A‐to‐G at nucleotide position 3,243 in the mitochondrial tRNA Leu(UUR) gene) is found in a family suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical features.