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congenital myopathy 4B, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 4B, autosomal recessive

MONDO:0012239

Also known as:TPM3 nemaline myopathynemaline myopathy caused by mutation in TPM3NEM1

Overview

Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.

GeneticsAutosomal recessive, Autosomal dominant · TPM3 (chr 1)

ResearchLimited published research (5 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: Narrow face, Generalized muscle weakness, Difficulty swallowing (dysphagia), and Sideways curvature of the spine (scoliosis) and 15 more.

Organ System	Phenotype Count	Example Features
Muscles	7	Generalized muscle weakness, Flexion contracture, Distal lower limb muscle weakness

Genetic Landscape

TPM3 function has not been fully characterized.

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

Diagnosis

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

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 4B, autosomal recessive.

5 publications have been identified in PubMed for congenital myopathy 4B, autosomal recessive. Research spans Epidemiology / Natural History (60%), Case Report / Case Series (20%), and Gene Therapy / Novel Therapeutics (20%).

Recent Publications

Michael E (2026). [PMID: 41159764](https://pubmed.ncbi.nlm.nih.gov/41159764/). *Annals of neurology*. [Epidemiology / Natural History]
Hildebrandt C (2025). [PMID: 40661861](https://pubmed.ncbi.nlm.nih.gov/40661861/). *Neurology. Genetics*. [Epidemiology / Natural History]
Fan S (2025). [PMID: 40115162](https://pubmed.ncbi.nlm.nih.gov/40115162/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]
Findlay AR (2024). [PMID: 39501809](https://pubmed.ncbi.nlm.nih.gov/39501809/). *Disease models & mechanisms*. [Gene Therapy / Novel Therapeutics]
Harikrishna GV (2024). [PMID: 38968056](https://pubmed.ncbi.nlm.nih.gov/38968056/). *Journal of neuromuscular diseases*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609284

GARD

Genetic and Rare Diseases Info Center

GARD:15453

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 4B, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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