ACTA1(redirected from CFTD1)
ACTA1A gene on chromosome 1q42.13 that encodes alpha actin 1, which is expressed in skeletal muscle.
ACTA1 mutations cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores and congenital myopathy with fibre-type disproportion.
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