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neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1

MONDO:0016197

Also known as:qualitative or quantitative defects of selenoprotein N1

Overview

Diagnosis

Biomarker and diagnostic research for neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 has been reported in the published literature.

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 neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1.

121 publications have been identified in PubMed for neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1. Research spans Other (76%), Review / Meta-Analysis (12%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Other research	75	76%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:209193

GARD

Genetic and Rare Diseases Info Center

GARD:20436

Questions for Your Care Team

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neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications