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- W2032590875 abstract "Le diabète mitochondrial représente environ 1 % des diabètes mais reste encore très souvent méconnu par les médecins. La mutation la plus fréquente, 3243A > G de l’ADNmt, est responsable du syndrome maternally inherited diabetes and deafness (MIDD). Dans cette revue, les caractéristiques et les particularités cliniques du MIDD sont décrites. Les avancées concernant la physiopathologie, le diagnostic et la prise en charge de ce syndrome sont développées. Mitochondrial diabetes affects up to 1% of patients with diabetes and is often unrecognised by the physicians. Maternally inherited diabetes and deafness (MIDD) resulting from the mutation 3243A > G of the mitochondrial DNA is the most frequent mutation associated with mitochondrial diabetes. This review summarizes the range of clinical phenotypes associated with MIDD and outlines the advances in genetic diagnosis, pathogenesis and management of these patients." @default.
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- W2032590875 date "2010-03-01" @default.
- W2032590875 modified "2023-10-02" @default.
- W2032590875 title "Diagnostic clinique et biologique du diabète mitochondrial et particularités de sa prise en charge" @default.
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- W2032590875 doi "https://doi.org/10.1016/j.revmed.2008.11.017" @default.
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