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ACTA1 - actin alpha 1, skeletal muscle
Diseases list
- Disease-causing germline mutation(s) in Childhood-onset nemaline myopathy
ORPHA:171439 
- Disease-causing germline mutation(s) in Congenital fiber-type disproportion myopathy
ORPHA:2020 - Disease-causing germline mutation(s) in Congenital myopathy with excess of thin filaments
ORPHA:98904 - Disease-causing germline mutation(s) in Intermediate nemaline myopathy
ORPHA:171433 - Disease-causing germline mutation(s) in Progressive scapulohumeroperoneal distal myopathy
ORPHA:447977 - Disease-causing germline mutation(s) in Rigid spine syndrome
ORPHA:97244 - Disease-causing germline mutation(s) in Severe congenital nemaline myopathy
ORPHA:171430 - Disease-causing germline mutation(s) in Typical nemaline myopathy
ORPHA:171436 - Disease-causing germline mutation(s) in Zebra body myopathy
ORPHA:97240
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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