ArticleJCEM case reports2023
Maternally Inherited Diabetes and Deafness (MIDD) - Atypical Clinical Diabetes Features Leading to the Diagnosis.
Article in JCEM case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 6 citations in OpenAlex.
- Clarifying the Diagnosis of Epstein-Barr Virus Related Myositis in a Genetically Confirmed Mitochondrial Diabetes Patient.European journal of case reports in internal medicine · 2026Article
- Advanced hybrid closed loop system (MiniMed 780G) achieving significant improvement of glucose control in a patient with maternally inherited diabetes and deafness: a case report.Acta diabetologica · 2025Article
- Mitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus.Molecular genetics and metabolism reports · 2025Review
- Epstein-Barr Virus Induced Myositis in a Patient with Mitochondrial Diabetes.European journal of case reports in internal medicine · 2025Article
- Mitochondrial diabetes plus phenotypes due to the m.3243A > G variant require correlation with heteroplasmy rates.Clinical case reports · 2024Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maternally inherited diabetes and deafness (MIDD) syndrome refers to a rarely diagnosed disorder caused by pathogenic variants in mtDNA. It was first identified in 1992 and, to date, is considered underdiagnosed because of misclassification to type 1 or type 2 diabetes mellitus. MIDD reflects a multisystem metabolic syndrome commonly resulting in insulin-requiring diabetes and sensorineural deafness but can also lead to a broad range of other manifestations. The spectrum of pathology differs among individuals, likely because of varied degrees of heteroplasmy associated with mtDNA. Heteroplasmy also creates diagnostic difficulties, with a high index of suspicion required to diagnose MIDD in some cases. Here, we review a patient with MIDD who presented with an atypical clinical diabetes picture, additionally documenting his pedigree. To our knowledge, this is the first Cypriot reported with MIDD.
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