Congenital myopathies – nemaline myopathies

We re-evaluated the muscle biopsies, clinical picture and molecular findings of 14 patients with severe forms of Congenital Nemaline myopathy (NM) due to ACTA1 mutations, with the aim of determining possible correlations between these findings. Muscle biopsy was performed between the ages of two days to three months. Eight children died in the first years of live, three died between the ages of 5-9 years old. Three patients are alive at the ages of 3, 12 and 18 years old in spite of the clinical severity; 2/3 follow normal schooling for their age.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: C. Labasse, G. Brochier, J. Rendu, J. Bohm, S. Monges, S. Quijano-Roy, H. Amthor, L. Servais, A. Madelaine, E. Lac ène, M. Bui, S. Coppens, V. Biancalana, F. Lubieniecki, N. Laing, A. Taratuto, A. Buj-Bello, T. Evangelista, J. Laporte, N. Romero Source Type: research