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central core myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Muscle weakness, Centrally nucleated skeletal muscle fibers, Delayed ability to walk, and Feeding difficulties and others; and very common findings: Weakness of facial musculature. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	10	Weakness of facial musculature, Type 1 muscle fiber predominance, Muscle weakness
Bones and joints	3	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Sideways curvature of the spine (scoliosis)
Pregnancy and birth	2	Congenital hip dislocation, Neonatal hypotonia
Head and neck	1	Weakness of facial musculature
Brain and nerves	1	Hyporeflexia
Digestive system	1	Feeding difficulties

Age of onset: newborn period.

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.

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

31 publications have been identified in PubMed for central core myopathy. Research spans Basic Science / Preclinical (42%), Case Report / Case Series (23%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	13	42%
Patient case studies	7	23%
Research summaries	4	13%
Disease patterns and progression	3	10%
Testing and diagnosis research	2	6%
New treatment approaches	2	6%

Recent Publications

Yang YL (2026). [PMID: 42121846](https://pubmed.ncbi.nlm.nih.gov/42121846/). *Cells*. [Review / Meta-Analysis]
Filippi K (2026). [PMID: 41965903](https://pubmed.ncbi.nlm.nih.gov/41965903/). *Nat Commun*. [Basic Science / Preclinical]
Zhang Y (2026). [PMID: 41622502](https://pubmed.ncbi.nlm.nih.gov/41622502/). *Compr Physiol*. [Review / Meta-Analysis]
Zanotti S (2026). [PMID: 41851258](https://pubmed.ncbi.nlm.nih.gov/41851258/). *Eur J Hum Genet*. [Gene Therapy / Novel Therapeutics]
Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain*. [Basic Science / Preclinical]
Yang J (2026). [PMID: 42062698](https://pubmed.ncbi.nlm.nih.gov/42062698/). *Clin Rheumatol*. [Diagnostic / Biomarker]
Kong F (2026). [PMID: 41379555](https://pubmed.ncbi.nlm.nih.gov/41379555/). *JCI Insight*. [Basic Science / Preclinical]
Granton D (2026). [PMID: 41906154](https://pubmed.ncbi.nlm.nih.gov/41906154/). *Crit Care*. [Epidemiology / Natural History]
Ibrahim F (2025). [PMID: 41209931](https://pubmed.ncbi.nlm.nih.gov/41209931/). *Cureus*. [Case Report / Case Series]
Vignard V (2025). [PMID: 40840166](https://pubmed.ncbi.nlm.nih.gov/40840166/). *EBioMedicine*. [Case Report / Case Series]

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central core myopathy

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

central core myopathy

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications