title: Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.
authors.affiliation: Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Cassone
authors.affiliation: Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Ferradini
authors.affiliation: Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Longo
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera-Università di Perugia, Perugia, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Sarchielli
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera-Università di Perugia, Perugia, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Murasecco
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera-Università di Perugia, Perugia, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Romoli
authors.affiliation: A. Meyer Children's University Hospital, Florence, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pasquini
authors.affiliation: Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera di Perugia, Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.affiliation: Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Sangiuolo
mesh_terms: D000328:Adult; D018118:Chloride Channels / Q000235:genetics*; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D009224:Myotonia Congenita / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels
keywords: Becker disease; CLCN1; F484L; NGS; Thomsen myotonia