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Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for myopathy, lactic acidosis, and sideroblastic anemia.
10 publications have been identified in PubMed for myopathy, lactic acidosis, and sideroblastic anemia. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 60% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries |
2 |
20% |
Laboratory research | 2 | 20% |
Abbas AA (2026). [PMID: 41675948](https://pubmed.ncbi.nlm.nih.gov/41675948/). *Saudi journal of medicine & medical sciences*. [Case Report / Case Series]
Villafan-Bernal JR (2026). [PMID: 41614925](https://pubmed.ncbi.nlm.nih.gov/41614925/). *Current issues in molecular biology*. [Case Report / Case Series]
Yuan JH (2025). [PMID: 41361485](https://pubmed.ncbi.nlm.nih.gov/41361485/). *Journal of human genetics*. [Case Report / Case Series]
Parisi L (2025). [PMID: 40438980](https://pubmed.ncbi.nlm.nih.gov/40438980/). *Haematologica*. [Case Report / Case Series]
Ferrera G (2025). [PMID: 41404429](https://pubmed.ncbi.nlm.nih.gov/41404429/). *Frontiers in pediatrics*. [Case Report / Case Series]
Ammar M (2025). [PMID: 39961824](https://pubmed.ncbi.nlm.nih.gov/39961824/). *Ann Hematol*. [Case Report / Case Series]
Chen H (2025). [PMID: 38407188](https://pubmed.ncbi.nlm.nih.gov/38407188/). *The International journal of neuroscience*. [Basic Science / Preclinical]
Eisenkölbl A (2025). [PMID: 40808490](https://pubmed.ncbi.nlm.nih.gov/40808490/). *Journal of neuromuscular diseases*. [Review / Meta-Analysis]
de Muijnck C (2024). [PMID: 38756953](https://pubmed.ncbi.nlm.nih.gov/38756953/). *American journal of ophthalmology case reports*. [Review / Meta-Analysis]
Wang B (2024). [PMID: 38635773](https://pubmed.ncbi.nlm.nih.gov/38635773/). *Blood*. [Basic Science / Preclinical]