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FEBS Lett. 1993 Apr 26;321(2-3):194-6.

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene.

Author information

1
Institute für Klinische Chemie und Diabetesforschung, Städt. Krankenhaus München-Schwabing, Germany.

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 features.

PMID:
8477849
DOI:
10.1016/0014-5793(93)80106-5
[Indexed for MEDLINE]
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