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: Source Type: research