Article
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Neuromuscular disorders : NMD - 1 Jul 2020
Avila-Smirnow Daniela, Vargas Leal Carmen Paz, Beytía Reyes María de Los Angeles, Cortés Zepeda Rocío, Escobar Raúl G, Kleinsteuber Saa Karin, Lagos Lucero Marcela, Avaria Benapres María de Los Angeles, Padilla Pérez Oslando, Casar Leturia Juan Carlos, Mellado Sagredo Cecilia, Sternberg Damien
Abstract excerpt
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations. Therefore, to expand the genetic and phenotypic spectrum of this disorder, we evaluated 30 Chilean patients...
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