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sarcoglycanopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sarcoglycanopathy

MONDO:0016140

Also known as:qualitative or quantitative defects of sarcoglycan

Overview

Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.

Diagnosis

Biomarker and diagnostic research for sarcoglycanopathy 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 sarcoglycanopathy.

129 publications have been identified in PubMed for sarcoglycanopathy. Research spans Other (66%), Review / Meta-Analysis (9%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Other research	85	66%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:207052

GARD

Genetic and Rare Diseases Info Center

GARD:20389

Questions for Your Care Team

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sarcoglycanopathy

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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