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nemaline myopathy 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 10

MONDO:0014513

Also known as:LMOD3 nemaline myopathyNEM10nemaline myopathy caused by mutation in LMOD3

Overview

Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.

GeneticsAutosomal recessive · LMOD3 (chr 3)

OnsetNEONATAL

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: Facial palsy, Generalized muscle weakness, Bulbar palsy, and Feeding difficulties and others; and common findings: Polyhydramnios, Decreased fetal movement, and Premature birth. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Skeletal muscle atrophy, Generalized muscle weakness, Flexion contracture

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.

LMOD3 encodes leiomodin 3 (560 aa). Essential for the organization of sarcomeric actin thin filaments in skeletal muscle. Increases the rate of actin polymerization Highest expression in Muscle Skeletal (153.1 TPM) and Heart Left Ventricle (38.2 TPM).

Nemaline myopathy 10 is caused by mutations in the LMOD3 gene on chromosome 3.

LMOD3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LMOD3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 3 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 10.

12 publications have been identified in PubMed for nemaline myopathy 10. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	6	50%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616165

GARD

Genetic and Rare Diseases Info Center

GARD:16066

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 10

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 10

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