Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

To date, more than 200 different pathogenic variants have been identified in the α-actin 1 gene (ACTA1). The vast majority, over 170 of these disease-causing variants, cause nemaline myopathy (NM), but variants in ACTA1 may cause a wide spectrum of myopathies, clinically varying from lethal fetal akinesia to disorders with mild muscle weakness [1,2]. In addition to NM, ACTA1 my opathies include actin myopathy, cap myopathy, congenital fibre-type disproportion, core-rod myopathy, intranuclear rod myopathy, zebra body myopathy, and progressive scapuloperoneal myopathy.

Source: Neuromuscular Disorders - December 25, 2017 Category: Neurology Authors: Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson Tags: Case report Source Type: research