Article
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Annales d'endocrinologie - 1 Jun 2020
Decoux-Poullot Anne-Gaëlle, Bannwarth Sylvie, Procaccio Vincent, Lebre Anne-Sophie, Jardel Claude, Vialettes Bernard, Paquis-Flucklinger Véronique, Chevalier Nicolas
Abstract excerpt
OBJECTIVE: While the most frequent mutation responsible for mitochondrial diabetes is the point mutation m.3243 A>G of mitochondrial DNA (mtDNA), few data are available about the role of rare mtDNA mutations in the pathophysiology of diabetes. The main objective of our study was to describe the phenotypic characteristics of patients suffering from diabetes linked to rare mtDNA mutations. RESEARCH DESIGN AND...
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