CACNA1S mutation associated with a case of juvenile-onset congenital myopathy

We present the case of an Italian family, whose affected members showed different degrees of muscle involvement and histopathological features compatible with congenital myopathies (CM), in the presence of a rare CACNA1S heterozygous mutation. CMs are a heterogeneous group of genetic muscle disorders ranging from severe and life-threatening neonatal manifestations to adult-onset milder forms [1] and classified according to specific histological and ultrastructural muscle biopsy features [2]. Main clinical characteristics include hypotonia and weakness of proximal and facial muscles, often associated with respiratory failure and cardiac involvement [1].

Source: Journal of the Neurological Sciences - November 3, 2021 Category: Neurology Authors: Eleonora Mauri, Daniela Piga, Serena Pagliarani, Francesca Magri, Arianna Manini, Monica Sciacco, Michela Ripolone, Laura Napoli, Linda Borellini, Claudia Cinnante, Denise Cassandrini, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Alessandra Govoni Tags: Letter to the Editor Source Type: research