Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Fiche publication
Date publication
avril 2020
Journal
Annales d'endocrinologie
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N
Lien Pubmed
Résumé
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.
Mots clés
ADN mitochondrial, Diabetes, Diabète, Diabète mitochondrial, Maladie mitochondriale, Mitochondrial DNA, Mitochondrial diabetes, Mitochondrial disease, Mutation rare, Rare mutation
Référence
Ann. Endocrinol. (Paris). 2020 Apr 28;: