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A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.
Biomarker and diagnostic research for TOR1AIP1-related myopathy has been reported in the published literature.
No clinical trials have been registered for TOR1AIP1-related myopathy.
298 publications have been identified in PubMed for TOR1AIP1-related myopathy. Kisho has analyzed 144 by research type. Research spans Review / Meta-Analysis (49%), Basic Science / Preclinical (19%), and Case Report / Case Series (9%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 71 | 49% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC
Common questions about TOR1AIP1-related myopathy
Laboratory research
28 |
19% |
Patient case studies | 13 | 9% |
Disease patterns and progression | 12 | 8% |
Clinical study results | 8 | 6% |
Testing and diagnosis research | 6 | 4% |
Other research | 3 | 2% |
New treatment approaches | 3 | 2% |
Labella B (2026). [PMID: 41252304](https://pubmed.ncbi.nlm.nih.gov/41252304/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
Isfort M (2026). [PMID: 41766074](https://pubmed.ncbi.nlm.nih.gov/41766074/). *J Clin Neuromuscul Dis*. [Review / Meta-Analysis]
Wang D (2026). [PMID: 41789780](https://pubmed.ncbi.nlm.nih.gov/41789780/). *Ann Acad Med Singap*. [Basic Science / Preclinical]
Sharma R (2026). [PMID: 41653646](https://pubmed.ncbi.nlm.nih.gov/41653646/). *Neuromuscul Disord*. [Review / Meta-Analysis]
Barbara PS (2026). [PMID: 41981708](https://pubmed.ncbi.nlm.nih.gov/41981708/). *Neurogastroenterol Motil*. [Review / Meta-Analysis]
Esper ME (2026). [PMID: 40825664](https://pubmed.ncbi.nlm.nih.gov/40825664/). *Cold Spring Harb Perspect Biol*. [Review / Meta-Analysis]
Huang L (2025). [PMID: 39994482](https://pubmed.ncbi.nlm.nih.gov/39994482/). *EMBO Mol Med*. [Epidemiology / Natural History]
Aleman M (2025). [PMID: 39880732](https://pubmed.ncbi.nlm.nih.gov/39880732/). *Vet Clin North Am Equine Pract*. [Review / Meta-Analysis]
Sugie K (2025). [PMID: 40350640](https://pubmed.ncbi.nlm.nih.gov/40350640/). *Brain Nerve*. [Review / Meta-Analysis]
Tongu Y (2025). [PMID: 40542649](https://pubmed.ncbi.nlm.nih.gov/40542649/). *FASEB J*. [Gene Therapy / Novel Therapeutics]