Congenital myopathies – nemaline myopathies
We describe clinical and histopathologic features of 5 newborns (two girls) studied between 2013 and 2020 in Clinica Alemana de Santiago and Hospital Luis Calvo Mackenna. Genetic analysis was performed in Hospital Bambino Ges ú and Invitae (commercial laboratory USA). The first patient studied (2013) was a girl with fetal akinesia syndrome.
Source: Neuromuscular Disorders - Category: Neurology Authors: R. Erazo-Torricelli, A. Gallardo, E. Bertini, F. Fattori, A. Zakharova, C. Arce, E. Alcalde, J. Carrasco, P. G ómez Source Type: research