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nemaline myopathy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 2

MONDO:0009725

Also known as:NEB nemaline myopathyNEM2nemaline myopathy 2, autosomal recessive

Overview

An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.

GeneticsAutosomal recessive · NEB (chr 2)

OnsetADULT

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: Weakness of facial musculature; and common findings: Narrow mouth, Fatty replacement of skeletal muscle, Falsely enlarged calf muscles (calf muscle pseudohypertrophy), and Foot dorsiflexor weakness and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	22	Muscle fiber splitting, Flexion contracture, Fatty replacement of skeletal muscle

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.

NEB encodes nebulin (8,525 aa). This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin Highest expression in Muscle Skeletal (846.4 TPM) and Heart Atrial Appendage (4.5 TPM).

Nemaline myopathy 2 is caused by mutations in the NEB gene on chromosome 2.

NEB is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for nemaline myopathy 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 7 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 2.

20 publications have been identified in PubMed for nemaline myopathy 2. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Patient case studies	9	45%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256030

GARD

Genetic and Rare Diseases Info Center

GARD:15209

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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Kisho

nemaline myopathy 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nemaline myopathy 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications