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polyglucosan body myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polyglucosan body myopathy

MONDO:0000192

Find Clinical TrialsTrials

Overview

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (8 articles)

Diagnosis

Biomarker and diagnostic research for polyglucosan body myopathy 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

8 publications have been identified in PubMed for polyglucosan body myopathy. Research spans Case Report / Case Series (75%), Diagnostic / Biomarker (13%), and Basic Science / Preclinical (13%).

Recent Publications

Visuttijai K (2026). [PMID: 42165248](https://pubmed.ncbi.nlm.nih.gov/42165248/). *J Clin Endocrinol Metab*. [Basic Science / Preclinical]
Panwar D (2026). [PMID: 42023422](https://pubmed.ncbi.nlm.nih.gov/42023422/). *Clin Genet*. [Diagnostic / Biomarker]
Zhu B (2026). [PMID: 41729854](https://pubmed.ncbi.nlm.nih.gov/41729854/). *Hum Mol Genet*. [Case Report / Case Series]
Yousefi-Koma H (2026). [PMID: 41589097](https://pubmed.ncbi.nlm.nih.gov/41589097/). *Oxf Med Case Reports*. [Case Report / Case Series]
Babaee M (2025). [PMID: 38922716](https://pubmed.ncbi.nlm.nih.gov/38922716/). *Neuropathology*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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polyglucosan body myopathy

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team