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congenital multicore myopathy with external ophthalmoplegia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital multicore myopathy with external ophthalmoplegia

MONDO:0009712

Also known as:minicore myopathy, antenatal onset, with arthrogryposisminicore myopathyminicore myopathy with external ophthalmoplegia

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Overview

An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.

GeneticsAutosomal recessive · RYR1 (chr 19)

OnsetANTENATAL

Clinical Trials2 registered · 1 recruiting

ResearchLimited published research (2 articles)

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:255320

Orphanet

European rare disease database

Orphanet:98905

GARD

Genetic and Rare Diseases Info Center

GARD:10316

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Features include always present findings: Motor delay, Minicore myopathy, Skeletal muscle atrophy, and Centrally nucleated skeletal muscle fibers and others; and very common findings: Low muscle tone (hypotonia). 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	13	Low muscle tone (hypotonia), Axial muscle weakness, Minicore myopathy
Bones and joints	4	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Sideways curvature of the spine (scoliosis)
Lungs and breathing	3	Pulmonary hypoplasia, Difficulty breathing (respiratory insufficiency), Recurrent respiratory infections
Pregnancy and birth	3	Hydrops fetalis, Decreased fetal movement, Neonatal hypotonia
Head and neck	2	Facial palsy, High palate
Lab test results	1	Abnormal circulating creatine kinase concentration
Digestive system	1	Feeding difficulties in infancy
Eyes	1	Ptosis
Blood and immune system	1	Recurrent respiratory infections

Age of onset: before birth.

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congenital multicore myopathy with external ophthalmoplegia

Overview

Medical References

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OMIM

Orphanet

GARD

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Questions for Your Care Team

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congenital multicore myopathy with external ophthalmoplegia

Overview

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications