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1993•FEBS LettersRequires access

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

Klaus-Dieter Gerbitz, A. Paprotta, Michaela Jaksch, S. Zierz, J. Drechsel

Open publisher page 59 citations

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.

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What this paper is about

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.

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OpenAlex reports 59 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Heteroplasmy, Mitochondrial DNA, Point mutation, Transfer RNA, Genetics, Gene, Mutation, Biology

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Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene — Research Paper | ScholarLens