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nemaline myopathy 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 8

MONDO:0014138

Also known as:KLHL40 nemaline myopathyNEM8nemaline myopathy 8, autosomal recessive

Overview

An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.

GeneticsAutosomal recessive · KLHL40 (chr 3)

OnsetINFANTILE, ANTENATAL

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 always present findings: Facial palsy and Muscle weakness; and very common findings: Difficulty swallowing (dysphagia), Flexion contracture, and Respiratory failure. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Flexion contracture, Myofibrillar myopathy, 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.

KLHL40 encodes kelch like family member 40 (621 aa). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development. Highest expression in Muscle Skeletal (302.9 TPM) and Testis (4.6 TPM).

Nemaline myopathy 8 is caused by mutations in the KLHL40 gene on chromosome 3.

KLHL40 is classified as a druggable target (Druggable Genome and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for KLHL40 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 2 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 8.

1 publication has been identified in PubMed for nemaline myopathy 8. Research spans Case Report / Case Series (100%).

Recent Publications

Sönmez B (2025). [PMID: 39911178](https://pubmed.ncbi.nlm.nih.gov/39911178/). *Mol Syndromol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615348

GARD

Genetic and Rare Diseases Info Center

GARD:15946

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 8

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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