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An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.
Biomarker and diagnostic research for mitochondrial DNA maintenance syndrome has been reported in the published literature.
No clinical trials have been registered for mitochondrial DNA maintenance syndrome.
34 publications have been identified in PubMed for mitochondrial DNA maintenance syndrome. Research spans Basic Science / Preclinical (35%), Case Report / Case Series (26%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 12 | 35% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies
9 |
26% |
Research summaries | 6 | 18% |
Disease patterns and progression | 3 | 9% |
Testing and diagnosis research | 2 | 6% |
New treatment approaches | 2 | 6% |
Wang W (2026). [PMID: 41765062](https://pubmed.ncbi.nlm.nih.gov/41765062/). *Mitochondrion*. [Case Report / Case Series]
Wang J (2026). [PMID: 41171527](https://pubmed.ncbi.nlm.nih.gov/41171527/). *Acta neurologica Belgica*. [Basic Science / Preclinical]
Shim YJ (2026). [PMID: 41846275](https://pubmed.ncbi.nlm.nih.gov/41846275/). *Br J Haematol*. [Epidemiology / Natural History]
Tenney L (2026). [PMID: 41383448](https://pubmed.ncbi.nlm.nih.gov/41383448/). *Chemical science*. [Review / Meta-Analysis]
Giada Giovenale AM (2026). [PMID: 42269329](https://pubmed.ncbi.nlm.nih.gov/42269329/). *Stem Cell Res*. [Basic Science / Preclinical]
Obrador E (2026). [PMID: 41897526](https://pubmed.ncbi.nlm.nih.gov/41897526/). *Antioxidants (Basel)*. [Review / Meta-Analysis]
Li Y (2026). [PMID: 42158679](https://pubmed.ncbi.nlm.nih.gov/42158679/). *Transl Pediatr*. [Case Report / Case Series]
Zanini G (2025). [PMID: 40305312](https://pubmed.ncbi.nlm.nih.gov/40305312/). *Biomolecules*. [Basic Science / Preclinical]
Zhou F (2025). [PMID: 41220167](https://pubmed.ncbi.nlm.nih.gov/41220167/). *Brain and behavior*. [Diagnostic / Biomarker]
Diquigiovanni C (2025). [PMID: 39173721](https://pubmed.ncbi.nlm.nih.gov/39173721/). *Gastroenterology*. [Basic Science / Preclinical]