Congenital myopathies 1 – nemaline

Actinopathies are congenital myopathies resulting from mutations in the ACTA1 gene encoding skeletal α-actin. ACTA1 mutations are the etiology for 15-30% of nemaline myopathies and approximately 50% of severe cases. The phenotypic spectrum is wide, with the most severely affected patients presenting with evidence of prenatal onset of disease and mildly affected subjects presenting first symptoms i n adulthood. This retrospective study of patients with causative mutations in the ACTA1 gene was performed at a single center.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: A. Foley, S. Ferranti, D. Saade, P. Mohassel, S. Donkervoort, L. Medne, J. Dastgir, D. Bharucha-Goebel, K. Meilleur, M. Leach, M. Scavina, S. Yum, G. Tennekoon, C. B önnemann Source Type: research