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congenital myopathy with internal nuclei and atypical cores (CNM4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy with internal nuclei and atypical cores

MONDO:0013890

Also known as:CNM4centronuclear myopathy 4centronuclear myopathy type 4

Overview

Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

GeneticsAutosomal dominant · CCDC78 (chr 16)

ResearchLimited published research (9 articles)

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: Muscle weakness; and very common findings: Exercise intolerance. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Centrally nucleated skeletal muscle fibers, Low muscle tone (hypotonia), Type 1 muscle fiber predominance

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CCDC78 encodes coiled-coil domain containing 78 (438 aa). Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Highest expression in Brain Cerebellum (27.3 TPM) and Brain Caudate basal ganglia (24.4 TPM).

Congenital myopathy with internal nuclei and atypical cores is associated with mutations in the CCDC78 gene on chromosome 16.

CCDC78 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CCDC78 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 with internal nuclei and atypical cores.

9 publications have been identified in PubMed for congenital myopathy with internal nuclei and atypical cores. Research spans Basic Science / Preclinical (44%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (11%).

Recent Publications

Shearer A (2026). [PMID: 41955018](https://pubmed.ncbi.nlm.nih.gov/41955018/). *JCI Insight*. [Basic Science / Preclinical]
Michael E (2026). [PMID: 41159764](https://pubmed.ncbi.nlm.nih.gov/41159764/). *Ann Neurol*. [Epidemiology / Natural History]
Mehmood H (2024). [PMID: 39425123](https://pubmed.ncbi.nlm.nih.gov/39425123/). *BMC Vet Res*. [Review / Meta-Analysis]
Mohar NP (2024). [PMID: 38732148](https://pubmed.ncbi.nlm.nih.gov/38732148/). *Int J Mol Sci*. [Gene Therapy / Novel Therapeutics]
Li Q (2024). [PMID: 38725372](https://pubmed.ncbi.nlm.nih.gov/38725372/). *J Cachexia Sarcopenia Muscle*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614807

Orphanet

European rare disease database

Orphanet:319160

GARD

Genetic and Rare Diseases Info Center

GARD:17443

Questions for Your Care Team

→Should I pursue genetic testing for CCDC78, 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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congenital myopathy with internal nuclei and atypical cores

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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