Referenced in: none

Automatically associated channels: ClC1 , ClC4

Title: A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

Authors: Raffaella Brugnoni, Dimos Kapetis, Paola Imbrici, Mauro Pessia, Eleonora Canioni, Lara Colleoni, Nicole Kerlero De Rosbo, Lucia Morandi, Paola Cudia, Nasrin Gashemi, Pia Bernasconi, Jean-François Desaphy, Diana Conte, Renato Mantegazza

Journal, date & volume: J. Hum. Genet., 2013 Jun 6 , ,

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23739125

Abstract