Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

Skeletal muscle channelopathies (SMCs) are rare genetic diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact the patients'quality of life [1]. Despite advances in the understanding of the molecular pathology of these disorders, the different phenotypic manifestations represent a challenge in diagnosis, therapeutic, genetic counselling, and research planning [2].

Source: Neuromuscular Disorders - December 14, 2020 Category: Neurology Authors: Raffaella Brugnoni, Lorenzo Maggi, Eleonora Canioni, Federico Verde, Annamaria Gallone, Alessandra Ariatti, Massimiliano Filosto, Cristina Petrelli, Francesco Ottavio Logullo, Marcello Esposito, Lucia Ruggiero, Paola Tonin, Pietro Riguzzi, Elena Pegoraro, Source Type: research