# nemaline myopathy 9

> nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has material basis in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31

**Wikidata**: [Q32144851](https://www.wikidata.org/wiki/Q32144851)  
**Source**: https://4ort.xyz/entity/nemaline-myopathy-9


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000239474/MONDO_0014326)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)