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myopathy with hexagonally cross-linked tubular arrays - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy with hexagonally cross-linked tubular arrays

MONDO:0015755

Overview

Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.

ResearchLimited published research (2 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 myopathy with hexagonally cross-linked tubular arrays.

2 publications have been identified in PubMed for myopathy with hexagonally cross-linked tubular arrays. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Singh R (2024). [PMID: 39040352](https://pubmed.ncbi.nlm.nih.gov/39040352/). *Heliyon*. [Review / Meta-Analysis]
de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome Med*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:171889

GARD

Genetic and Rare Diseases Info Center

GARD:20129

Questions for Your Care Team

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myopathy with hexagonally cross-linked tubular arrays

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team