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Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.
No clinical trials have been registered for MELAS syndrome caused by mutation in MTTL1.
25 publications have been identified in PubMed for MELAS syndrome caused by mutation in MTTL1. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 44% |
Laboratory research | 9 | 36% |
Research summaries | 5 | 20% |
Yang F (2026). [PMID: 41501912](https://pubmed.ncbi.nlm.nih.gov/41501912/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Oh J (2026). [PMID: 42135206](https://pubmed.ncbi.nlm.nih.gov/42135206/). *Kidney Res Clin Pract*. [Basic Science / Preclinical]
Banerjee S (2026). [PMID: 41850596](https://pubmed.ncbi.nlm.nih.gov/41850596/). *Mitochondrion*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
Common questions about MELAS syndrome caused by mutation in MTTL1
Janiak J (2026). [PMID: 41171526](https://pubmed.ncbi.nlm.nih.gov/41171526/). *Acta Neurol Belg*. [Case Report / Case Series]
Dodulík J (2026). [PMID: 41682788](https://pubmed.ncbi.nlm.nih.gov/41682788/). *J Clin Med*. [Case Report / Case Series]
Oppenheimer KR (2026). [PMID: 41472381](https://pubmed.ncbi.nlm.nih.gov/41472381/). *J Clin Endocrinol Metab*. [Case Report / Case Series]
Maresca A (2026). [PMID: 41637969](https://pubmed.ncbi.nlm.nih.gov/41637969/). *Mol Genet Metab*. [Basic Science / Preclinical]
Mohsen M (2026). [PMID: 41928125](https://pubmed.ncbi.nlm.nih.gov/41928125/). *BMC Neurol*. [Case Report / Case Series]
Mancuso M (2026). [PMID: 41999163](https://pubmed.ncbi.nlm.nih.gov/41999163/). *Eur J Neurol*. [Review / Meta-Analysis]
Gillespie H (2025). [PMID: 40787093](https://pubmed.ncbi.nlm.nih.gov/40787093/). *J Rare Dis (Berlin)*. [Case Report / Case Series]