nemaline myopathy 8
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.
MONDO:0015735
severe congenital nemaline myopathy
is_a
KLHL40 nemaline myopathy
exact
NEM8
exact
nemaline myopathy 8
exact
nemaline myopathy caused by mutation in KLHL40
exact
nemaline myopathy type 8
exact