congenital myopathy 2a, typical, autosomal dominant
An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.
MONDO:0015735
severe congenital nemaline myopathy
is_a
MONDO:0015736
intermediate nemaline myopathy
is_a
MONDO:0015737
typical nemaline myopathy
is_a
MONDO:0015738
childhood-onset nemaline myopathy
is_a
MONDO:0100084
alpha-actinopathy
is_a
ACTA1 nemaline myopathy
exact
CMYO2A
exact
NEM3
related
actin accumulation myopathy
exact
actin accumulation myopathy (disorder)
exact
actin myopathy
exact
congenital myopathy 2a, typical, autosomal dominant
exact
congenital myopathy with excess of thin filaments
exact
nemaline myopathy 3
related
nemaline myopathy caused by mutation in ACTA1
exact
nemaline myopathy type 3
exact
SPBC32H8.12c