Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant

Non-dystrophic myotonias are muscle channelopathies caused by pathogenic variants in CLCN1 or SCN4A. The specific phenotype or subtype, treatment, and inheritance pattern of non-dystrophic myotonias depend on the involved gene and pathogenic variant of the same gene [1 –3].

Source: Neuromuscular Disorders - May 12, 2020 Category: Neurology Authors: Daniela Avila-Smirnow, Carmen Paz Vargas Leal, Mar ía de Los Angeles Beytía Reyes, Rocío Cortés Zepeda, Raúl G. Escobar, Karin Kleinsteuber Saa, Marcela Lagos Lucero, María de los Angeles Avaria Benapres, Oslando Padilla Pérez, Juan Carlos Casar Le Source Type: research