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congenital myopathy 23 (CAPM2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 23

MONDO:0012240

Also known as:CAPM2NEM4TPM2 nemaline myopathy

Overview

Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.

GeneticsAutosomal dominant · TPM2 (chr 9)

ResearchLimited published research (4 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: Motor delay, Lower limb muscle weakness, Difficulty walking (gait disturbance), and Joint contracture and others; and very common findings: Nemaline bodies. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	17	Muscle fiber splitting, Low muscle tone (hypotonia), Generalized hypotonia

Genetic Landscape

TPM2 function has not been fully characterized.

Congenital myopathy 23 is associated with mutations in the TPM2 gene on chromosome 9.

Diagnosis

Genetic testing for TPM2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature, 9 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 23.

4 publications have been identified in PubMed for congenital myopathy 23. Research spans Epidemiology / Natural History (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Michael E (2026). [PMID: 41159764](https://pubmed.ncbi.nlm.nih.gov/41159764/). *Ann Neurol*. [Epidemiology / Natural History]
Khadilkar SV (2025). [PMID: 41099380](https://pubmed.ncbi.nlm.nih.gov/41099380/). *Ann Indian Acad Neurol*. [Review / Meta-Analysis]
Hildebrandt C (2025). [PMID: 40661861](https://pubmed.ncbi.nlm.nih.gov/40661861/). *Neurol Genet*. [Basic Science / Preclinical]
Harikrishna GV (2024). [PMID: 38968056](https://pubmed.ncbi.nlm.nih.gov/38968056/). *J Neuromuscul Dis*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609285

GARD

Genetic and Rare Diseases Info Center

GARD:15454

Questions for Your Care Team

→Should I pursue genetic testing for TPM2, 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 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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