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nemaline myopathy 5C, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 5C, autosomal dominant

MONDO:0957284

Overview

GeneticsAutosomal dominant · TNNT1 (chr 19)

ResearchLimited published research (1 article)

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 very common findings: Nemaline bodies; and common findings: Poor head control, Floppy infant, Difficulty climbing stairs, and Low muscle tone (hypotonia) and others. 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	14	Achilles tendon contracture, Quadriceps muscle weakness, Difficulty climbing stairs

Genetic Landscape

TNNT1 function has not been fully characterized.

Nemaline myopathy 5C, autosomal dominant is associated with mutations in the TNNT1 gene on chromosome 19.

Diagnosis

Genetic testing for TNNT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 20 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 nemaline myopathy 5C, autosomal dominant.

1 publication has been identified in PubMed for nemaline myopathy 5C, autosomal dominant. Research spans Basic Science / Preclinical (100%).

Recent Publications

Al-Ahmadi W (2026). [PMID: 41481712](https://pubmed.ncbi.nlm.nih.gov/41481712/). *Sci Adv*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620389

Questions for Your Care Team

→Should I pursue genetic testing for TNNT1, 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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nemaline myopathy 5C, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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