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Features include always present findings: Ragged-red muscle fibers, Babinski sign, Difficulty walking (gait disturbance), and Limb muscle weakness and others. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 10 | Ragged-red muscle fibers, Weakness of orbicularis oculi muscle, Low muscle tone (hypotonia) |
Biomarker and diagnostic research for mitochondrial myopathy with diabetes has been reported in the published literature.
Phenotype severity distribution: 8 always present features.
No clinical trials have been registered for mitochondrial myopathy with diabetes.
122 publications have been identified in PubMed for mitochondrial myopathy with diabetes. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (28%), and Epidemiology / Natural History (19%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 35 | 29% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Brain and nerves
6 |
Hyporeflexia, Babinski sign, Difficulty walking (gait disturbance) |
Lab test results | 2 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Decreased activity of mitochondrial complex IV |
Head and neck | 1 | Facial palsy |
Arms and legs | 1 | Limb muscle weakness |
Hormones | 1 | Type II diabetes mellitus |
Laboratory research
34 |
28% |
Disease patterns and progression | 23 | 19% |
Patient case studies | 13 | 11% |
Clinical study results | 9 | 7% |
Testing and diagnosis research | 5 | 4% |
New treatment approaches | 3 | 2% |
Liu F (2026). [PMID: 41093118](https://pubmed.ncbi.nlm.nih.gov/41093118/). *J Ethnopharmacol*. [Gene Therapy / Novel Therapeutics]
Tahir F (2026). [PMID: 41942166](https://pubmed.ncbi.nlm.nih.gov/41942166/). *BMJ Case Rep*. [Case Report / Case Series]
Kleefeld F (2026). [PMID: 41639907](https://pubmed.ncbi.nlm.nih.gov/41639907/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]
Bayrak Demirel O (2026). [PMID: 39719130](https://pubmed.ncbi.nlm.nih.gov/39719130/). *Horm Res Paediatr*. [Case Report / Case Series]
Karacabeyli D (2026). [PMID: 41466578](https://pubmed.ncbi.nlm.nih.gov/41466578/). *Arthritis Rheumatol*. [Epidemiology / Natural History]
Marozzi J (2026). [PMID: 41285026](https://pubmed.ncbi.nlm.nih.gov/41285026/). *Hum Reprod*. [Epidemiology / Natural History]
He C (2026). [PMID: 41512597](https://pubmed.ncbi.nlm.nih.gov/41512597/). *Cytokine Growth Factor Rev*. [Review / Meta-Analysis]
Magen E (2026). [PMID: 41288203](https://pubmed.ncbi.nlm.nih.gov/41288203/). *Clin Endocrinol (Oxf)*. [Clinical Trial Publication]
Zhou S (2026). [PMID: 41582383](https://pubmed.ncbi.nlm.nih.gov/41582383/). *Endocr Metab Immune Disord Drug Targets*. [Case Report / Case Series]
Velez N (2026). [PMID: 40958075](https://pubmed.ncbi.nlm.nih.gov/40958075/). *Skeletal Radiol*. [Case Report / Case Series]
AI-curated news mentioning mitochondrial myopathy with diabetes
Updated Sep 1, 2026
A multinational cohort study from the GENOMIT registry provides real-world insights into mitochondrial diabetes mellitus. The findings contribute to understanding the disease's prevalence and management strategies.
Recent research highlights advances in clinical trials and therapeutic strategies for MELAS associated with the mitochondrial DNA A3243G variant. These findings may inform future disease-modifying interventions.