Congenital myopathies – nemaline myopathies

Nemaline myopathies (NM) are genetically and phenotypically heterogeneous congenital myopathies (CM), with NEB gene related NM being the most common. In this work, we provide phenotypic and genotypic data on a clinically and genetically heterogeneous cohort of NM patients seen or diagnosed at the Highly Specialised Service for CM at Great Ormond Street Hospital until March 2021. We identified 134 patients with a genetic diagnosis of NM. 60 patients had NEB, 39 ACTA1, 11 TPM3, 9 KLHL40, 8 TPM2, 3 LMOD3, 2 TNNT1 and 2 CFL2 related NM.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research