nemaline myopathy 8
Findings
No curated finding names nemaline myopathy 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014138), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Facial palsyHPOHP:0010628
- 23 of 23 reported patients
- Muscle weaknessHPOHP:0001324
- 29 of 29 reported patients
- Respiratory failureHPOHP:0002878
- 28 of 29 reported patients
- DysphagiaHPOHP:0002015
- 23 of 24 reported patients
- Flexion contractureHPOHP:0001371
- 24 of 27 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 13 of 24 reported patients · Infantile onset
- PolyhydramniosHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KLHL40HGNC:30372
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: nemaline myopathy 8
- Also called
- KLHL40 nemaline myopathyNEM8nemaline myopathy caused by mutation in KLHL40nemaline myopathy type 8