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autosomal recessive centronuclear myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive centronuclear myopathy

MONDO:0015705

Also known as:AR-CNMcentronuclear myopathy, autosomal recessive

Overview

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

OnsetCONGENITAL

Diagnosis

Biomarker and diagnostic research for autosomal recessive centronuclear myopathy has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 autosomal recessive centronuclear myopathy.

10 publications have been identified in PubMed for autosomal recessive centronuclear myopathy. Research spans Gene Therapy / Novel Therapeutics (40%), Basic Science / Preclinical (30%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
New treatment approaches	4	40%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:169186

GARD

Genetic and Rare Diseases Info Center

GARD:12718

Questions for Your Care Team

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autosomal recessive centronuclear myopathy

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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