Novel p.Asp27Glu ACTA1 Variant Features Congenital Myopathy with Finger Flexor Weakness, Cardiomyopathy, and Cardiac Conduction Defects

The skeletal muscle α-actin 1 gene (ACTA1) encodes skeletal muscle α-actin, a highly conserved protein constituting the main actin isoform in thin filaments of the sarcomere, which is essential to skeletal and cardiac muscle contraction through interaction with myosin [1–3]. Pathogenic variants in ACTA1 cause autos omal dominant, or, less frequently, recessive congenital myopathies [1–5]. Clinical presentations are heterogeneous in age of onset and severity, ranging from severe infantile weakness with respiratory involvement to mild adolescent-to-adult-onset proximal-predominant weakness [6–8] with poor ge notype-phenotype correlation [1] and variability within family members [3,9].
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research