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Author

J. Schäfer

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Review Open access Sep 2026

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry–a multinational, longitudinal cohort study

Summary Background Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. Methods In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirm...

Luisa Semmler, B. Büchner, C. Kornblum et al. · 0 citations
Open access Jul 2026

Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant

The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.

R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al. · 0 citations

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