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congenital myopathy 4A, autosomal dominant (CAPM1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 4A, autosomal dominant

MONDO:0800341

Also known as:CAPM1CFTDCFTDM

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive, Autosomal dominant · TPM3 (chr 1)

Clinical Trials2 registered · 1 recruiting

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: Congenital hip dislocation, Facial palsy, Failure to thrive, and Reduced forced vital capacity and 21 more.

Organ System	Phenotype Count	Example Features
Muscles	6	Proximal muscle weakness, Generalized muscle weakness, Centrally nucleated skeletal muscle fibers

Genetic Landscape

TPM3 function has not been fully characterized.

Congenital myopathy 4A, autosomal dominant is associated with mutations in the TPM3 gene on chromosome 1.

Diagnosis

Genetic testing for TPM3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myopathy 4A, autosomal dominant has been reported in the published literature.

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.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

146 publications have been identified in PubMed for congenital myopathy 4A, autosomal dominant. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Laboratory research	54	38%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:255310

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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congenital myopathy 4A, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital myopathy 4A, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications