has material basis in germline mutation in KLHL40 nemaline myopathy 8 https://www.malacards.org/card/nemaline_myopathy_8 UMLS:C3809209 KLHL40 nemaline myopathy NCIT:C129871 GARD:0015946 nemaline myopathy caused by mutation in KLHL40 DOID:0110930 MEDGEN:815539 nemaline myopathy 8 nemaline myopathy type 8 NEM8 MONDO:0014138 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. OMIM:615348 severe congenital nemaline myopathy nemaline myopathy