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nemaline myopathy 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 7

MONDO:0012538

Also known as:CFL2 nemaline myopathyNEM7nemaline myopathy 7, autosomal recessive

Overview

Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.

GeneticsAutosomal recessive · CFL2 (chr 14)

ResearchLimited published research (7 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: Limb muscle weakness, Motor delay, Gowers sign, and Lower limb muscle weakness and others; and common findings: Low muscle tone (hypotonia), Fatty replacement of skeletal muscle, Abnormally low-pitched voice, and Weakness of facial musculature and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	19	Low muscle tone (hypotonia), Fatty replacement of skeletal muscle, Limb muscle weakness

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.

CFL2 encodes cofilin 2 (166 aa). Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3. Highest expression in Muscle Skeletal (124.9 TPM) and Artery Tibial (84.0 TPM).

Nemaline myopathy 7 is caused by mutations in the CFL2 gene on chromosome 14.

CFL2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFL2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present features, 17 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 7.

8 publications have been identified in PubMed for nemaline myopathy 7. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (29%), and Case Report / Case Series (29%).

Recent Publications

Hildebrandt C (2025). [PMID: 40661861](https://pubmed.ncbi.nlm.nih.gov/40661861/). *Neurol Genet*. [Basic Science / Preclinical]
Safi F (2025). [PMID: 39812211](https://pubmed.ncbi.nlm.nih.gov/39812211/). *Tunis Med*. [Review / Meta-Analysis]
Coulson Z (2025). [PMID: 40108735](https://pubmed.ncbi.nlm.nih.gov/40108735/). *Skelet Muscle*. [Basic Science / Preclinical]
Soontrapa P (2025). [PMID: 40921022](https://pubmed.ncbi.nlm.nih.gov/40921022/). *Neurology*. [Review / Meta-Analysis]
Dofash LNH (2025). [PMID: 40581737](https://pubmed.ncbi.nlm.nih.gov/40581737/). *Hum Mol Genet*. [Case Report / Case Series]
Chalipat S (2024). [PMID: 39099920](https://pubmed.ncbi.nlm.nih.gov/39099920/). *Cureus*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610687

GARD

Genetic and Rare Diseases Info Center

GARD:15493

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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nemaline myopathy 7

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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