A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy

Mutations in the gene for skeletal muscle α-actin 1 (ACTA1), expressed in skeletal muscle tissue, are a common cause of congenital myopathies. ACTA1 mutations often lead to severe congenital nemaline myopathy (NM) but may, in some instances, cause much milder muscle weakness [1]. Depending on the definitions used, ACTA1-caused myopathies m ay, besides NM [2], be termed: actin myopathy, congenital fibre type disproportion [3], cap myopathy, core-rod myopathy [4], zebra body myopathy [1,5], intranuclear rod myopathy [6], slowly progressive scapuloperoneal myopathy with late respiratory involvement [7], and distal NM [8].

Source: Neuromuscular Disorders - November 29, 2023 Category: Neurology Authors: Vilma-Lotta Lehtokari, Lydia Sagath, Mark Davis, Desiree Ho, Kirsi Kiiski, Kaisa Kettunen, Matthew Demczko, Riki Stein, Matteo Vatta, Thomas L. Winder, Adi Shohet, Naama Orenstein, Peter Krcho, Peter Bohu š, Sanna Huovinen, Bjarne Udd, Katarina Pelin, Ni Tags: Research paper Source Type: research