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congenital myasthenic syndrome with tubular aggregates - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome with tubular aggregates

MONDO:0000182

Also known as:CMS-TAmyasthenic syndrome, congenital, with tubular aggregates

Overview

A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.

ResearchLimited published research (7 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital myasthenic syndrome with tubular aggregates.

7 publications have been identified in PubMed for congenital myasthenic syndrome with tubular aggregates. Research spans Case Report / Case Series (57%), Epidemiology / Natural History (29%), and Other (14%).

Recent Publications

Ramezani M (2026). [PMID: 41312578](https://pubmed.ncbi.nlm.nih.gov/41312578/). *Muscle & nerve*. [Epidemiology / Natural History]
Torrey K (2026). [PMID: 42247610](https://pubmed.ncbi.nlm.nih.gov/42247610/). *J Neuromuscul Dis*. [Case Report / Case Series]
Rashed HR (2025). [PMID: 41072378](https://pubmed.ncbi.nlm.nih.gov/41072378/). *Neuromuscular disorders : NMD*. [Other]
Camelo-Filho AE (2025). [PMID: 41323224](https://pubmed.ncbi.nlm.nih.gov/41323224/). *Frontiers in neurology*. [Case Report / Case Series]
Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]

Data assembled from 2 of 12 sources · Last updated Oct 4, 2026, 6:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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congenital myasthenic syndrome with tubular aggregates

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team