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. [ NCIT:C129871 ]
Synonyms: nemaline myopathy type 8 nemaline myopathy 8, autosomal recessive NEM8 KLHL40 nemaline myopathy nemaline myopathy 8 nemaline myopathy caused by mutation in KLHL40
Term information
- GARD:15946 (OMIM:615348)
- DOID:0110930 (MONDO:equivalentTo)
- UMLS:C3809209 (OMIM:615348)
- OMIM:615348 (MONDO:equivalentTo)
- NCIT:C129871 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
http://linkedlifedata.com/resource/umls/id/C3809209
https://omim.org/entry/615348
http://purl.obolibrary.org/obo/NCIT_C129871
http://purl.obolibrary.org/obo/DOID_0110930