Article
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Neuromuscular disorders : NMD - 1 Mar 2012
Mazón María J, Barros Francisco, De la Peña Pilar, Quesada Juan F, Escudero Adela, Cobo Ana M, Pascual-Pascual Samuel I, Gutiérrez-Rivas Eduardo, Guillén Encarna, Arpa Javier, Eraso Pilar, Portillo Francisco, Molano Jesús
Abstract excerpt
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry mutations in SCN4A gene. We have found 26 different mutations in CLCN1 gene, including 13 not reported previously. Among those 26 mutations, c.180+3A>T in intron 1 is...
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