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myofibrillar myopathy 11 (MFM11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myofibrillar myopathy 11

MONDO:0030927

Also known as:MFM11myopathy, congenital, with eccentric cores

Overview

GeneticsAutosomal dominant · UNC45B (chr 17)

OnsetINFANTILE, ANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Centrally nucleated skeletal muscle fibers, Gowers sign, Reduced forced vital capacity, and Decreased fetal movement and others; and very common findings: Proximal muscle weakness. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	10	Centrally nucleated skeletal muscle fibers, Gowers sign, Muscle fiber granulofilamentous inclusion bodies

Genetic Landscape

UNC45B function has not been fully characterized.

Myofibrillar myopathy 11 is associated with mutations in the UNC45B gene on chromosome 17.

Diagnosis

Genetic testing for UNC45B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myofibrillar myopathy 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 1 very common feature, 6 common features.

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 myofibrillar myopathy 11.

15 publications have been identified in PubMed for myofibrillar myopathy 11. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	5	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619178

Questions for Your Care Team

→Should I pursue genetic testing for UNC45B, and what would the results mean for my family?
→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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myofibrillar myopathy 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myofibrillar myopathy 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications