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Article

Approach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach.

The Journal of clinical endocrinology and metabolism - 17 Mar 2026

Oppenheimer Kaylee R, Himelhoch Nava T, McCullough Michael E, Bowden Tiana L, Kandasamy Balamurugan, Letourneau-Freiberg Lisa R, Naylor Rochelle N, Greeley Siri Atma W, Philipson Louis H

Abstract excerpt

Maternally inherited diabetes and deafness (MIDD) syndrome is a rare form of monogenic diabetes most often caused by the pathogenic m.3243A > G mutation in the mitochondrial tRNALeu (UUR) gene, MT-TL1. Mutations causing MIDD are also associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. This paper analyzes the data of 15 probands with mitochondrial diabetes enrolled in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41472381
DOI: 10.1210/clinem/dgaf698
PMCID: PMC13017401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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