Mutations in ACTA1 gene encoding skeletal muscle α-actin 1 have been recognized as a cause of various muscle diseases, such as nemaline myopathy, actin accumulate myopathy, congenital fibre-type disproportion, cap myopathy and intranuclear rod myopathy. ACTA1 is a highly-conserved gene in muscle, therefore, most mutations in ACTA1 have been pathogenic with primarily a dominant mode of action and they have been associated with very severe phenotypes and usually with fatal respiratory involvement in infancy.

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