Article
A SCN4A mutation causing paramyotonia congenita.
Neuromuscular disorders : NMD - 1 Dec 2017
Palma Carmen, Prior Carmen, Gómez-González Clara, Rodríguez-Antolin Carlos, Martínez-Montero Paloma, Pérez de Ayala Lucía, Pascual Samuel I, Molano Mateos Jesús
Abstract excerpt
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345). It is estimated that more than 20% of patients with suspected myotonia congenita suffer paramyotonia congenita. The two related...
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