Browsing by Author "dc89d7b0-46f4-4038-8c2c-50059d4e1587"

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    • Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant 
      Ávila Smirnow, Daniela; Vargas Leal, Carmen; Beytía Reyes, María de los Ángeles; Cortés Zepeda, Rocío; Escobar, Raúl G.; Kleinsteuber Saa, Karin; Lagos Lucero, Marcela; Avaria Benapres, María de los Ángeles; Padilla Pérez, Oslando; Casar Leturia, Juan Carlos; Mellado Sagredo, Cecilia; Sternberg, Damien (Elsevier, 2020)
      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 ...