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congenital myopathy 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 26

MONDO:0979229

Overview

GeneticsAutosomal dominant

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: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Scapular winging, Fatty replacement of skeletal muscle, and Motor delay and others; and common findings: Centrally nucleated skeletal muscle fibers and Ptosis. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Fatty replacement of skeletal muscle, Proximal lower limb muscle weakness, Proximal upper limb muscle weakness

Diagnosis

Biomarker and diagnostic research for congenital myopathy 26 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 always present features, 2 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 congenital myopathy 26.

59 publications have been identified in PubMed for congenital myopathy 26. Research spans Basic Science / Preclinical (29%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	17	29%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621225

Questions for Your Care Team

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Kisho

congenital myopathy 26

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital myopathy 26

Overview

Clinical Presentation

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