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pro vyhledávání: '"María de los Angeles Avaria Benapres"'
Autor:
Carmen Paz Vargas Leal, Raul G. Escobar, María de Los Angeles Beytía Reyes, Juan Carlos Casar Leturia, Marcela Lagos Lucero, Rocío Cortés Zepeda, Damien Sternberg, María de los Angeles Avaria Benapres, Karin Kleinsteuber Saa, Daniela Avila-Smirnow, Oslando Padilla Pérez, Cecilia Mellado Sagredo
Publikováno v:
Neuromuscular disorders : NMD. 30(7)
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