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multiminicore myopathy (MmD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiminicore myopathy

MONDO:0018948

Also known as:MmDmulticore diseasemulticore myopathy

Find Clinical TrialsTrials

Overview

A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.

OnsetANTENATAL

Clinical Trials2 registered · 1 recruiting

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for multiminicore 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.

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

5 publications have been identified in PubMed for multiminicore myopathy. Research spans Basic Science / Preclinical (40%), Epidemiology / Natural History (40%), and Diagnostic / Biomarker (20%).

Recent Publications

Michael E (2026). [PMID: 41159764](https://pubmed.ncbi.nlm.nih.gov/41159764/). *Ann Neurol*. [Epidemiology / Natural History]
Ginsberg M (2026). [PMID: 41753076](https://pubmed.ncbi.nlm.nih.gov/41753076/). *J Clin Med*. [Epidemiology / Natural History]
Shimazaki R (2025). [PMID: 41270518](https://pubmed.ncbi.nlm.nih.gov/41270518/). *Neuromuscul Disord*. [Diagnostic / Biomarker]
Barraza-Flores P (2025). [PMID: 40087793](https://pubmed.ncbi.nlm.nih.gov/40087793/). *Skelet Muscle*. [Basic Science / Preclinical]
Li C (2024). [PMID: 39233227](https://pubmed.ncbi.nlm.nih.gov/39233227/). *J Biol Chem*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:598

GARD

Genetic and Rare Diseases Info Center

GARD:16536

Questions for Your Care Team

→Are any of the 2 active clinical trials 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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multiminicore myopathy

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team