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A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.
2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
41 publications have been identified in PubMed for congenital structural myopathy. Research spans Basic Science / Preclinical (34%), Gene Therapy / Novel Therapeutics (20%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 14 | 34% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:02 PM UTC
New treatment approaches |
8 |
20% |
Patient case studies | 7 | 17% |
Research summaries | 5 | 12% |
Disease patterns and progression | 4 | 10% |
Other research | 2 | 5% |
Clinical study results | 1 | 2% |
Goret M (2026). [PMID: 41683892](https://pubmed.ncbi.nlm.nih.gov/41683892/). *Int J Mol Sci*. [Basic Science / Preclinical]
Michael E (2026). [PMID: 41159764](https://pubmed.ncbi.nlm.nih.gov/41159764/). *Ann Neurol*. [Epidemiology / Natural History]
Tosi M (2026). [PMID: 41918325](https://pubmed.ncbi.nlm.nih.gov/41918325/). *Brain Pathol*. [Other]
Chen L (2026). [PMID: 41982260](https://pubmed.ncbi.nlm.nih.gov/41982260/). *Front Pediatr*. [Case Report / Case Series]
Bohill J (2026). [PMID: 41806468](https://pubmed.ncbi.nlm.nih.gov/41806468/). *Neuromuscul Disord*. [Epidemiology / Natural History]
Gómez-Oca R (2026). [PMID: 42100875](https://pubmed.ncbi.nlm.nih.gov/42100875/). *JCI Insight*. [Gene Therapy / Novel Therapeutics]
Abolibdeh B (2026). [PMID: 42201138](https://pubmed.ncbi.nlm.nih.gov/42201138/). *Muscles*. [Review / Meta-Analysis]
Onofre-Oliveira P (2025). [PMID: 40273816](https://pubmed.ncbi.nlm.nih.gov/40273816/). *Neuromuscul Disord*. [Case Report / Case Series]
Goret M (2025). [PMID: 40042903](https://pubmed.ncbi.nlm.nih.gov/40042903/). *Proc Natl Acad Sci U S A*. [Gene Therapy / Novel Therapeutics]
Valle-Clara M (2025). [PMID: 41212187](https://pubmed.ncbi.nlm.nih.gov/41212187/). *Am J Physiol Cell Physiol*. [Basic Science / Preclinical]