CONGENITAL MYOPATHIES 1 – NEMALINE: P.27 Asymmetric muscle weakness due to ACTA1 mosaic mutations

Abstract

Nemaline myopathies (NM) are clinically and genetically heterogeneous muscle disorders characterized by the presence of nemaline rods on muscle biopsies. Depending on the causative gene and the type of mutation, the clinical presentation of affected individuals can range from severe prenatal and neonatal muscle weakness with poor prognosis to milder childhood and adult-onset forms. Despite the discovery of 13 causative NM genes, a significant number of patients still await for molecular diagnosis.