title: Myotonia congenita: novel mutations in CLCN1 gene.
abstract: Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms. Here we have sequenced all 23 exons and exon-intron boundaries of the CLCN1 gene, in a panel of 5 unrelated Chinese patients with myotonia congenita (2 with dominant and 3 with recessive form). In addition, detailed clinical analysis was performed in these patients to summarize their clinical characteristics in relation to their genotypes. Mutational analyses revealed 7 different point mutations. Of these, we have found 3 novel mutations including 2 missense (R47W, V229M), one splicing (IVS19+2T>C), and 4 known mutations (Y261C,G523D, M560T, G859D). Our data expand the spectrum of CLCN1 mutations and provide insights for genotype-phenotype correlations of myotonia congenita in the Chinese population.
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Liu
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Huang
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Jun-Yi
authors.initials: JY
authors.lastname: Shen
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Hai-Yan
authors.initials: HY
authors.lastname: Zhou
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Xing-Hua
authors.initials: XH
authors.lastname: Luan
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Tian
authors.initials: T
authors.lastname: Wang
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Sheng-Di
authors.initials: SD
authors.lastname: Chen
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Hui-Dong
authors.initials: HD
authors.lastname: Tang
authors.affiliation: a Department of Neurology ; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine ; Shanghai , China.
authors.forename: Li
authors.initials: L
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009224:Myotonia Congenita / Q000235:genetics*; D017354:Point Mutation; D012326:RNA Splicing
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels
keywords: Becker's disease; Thomsen's disease; chloride channel gene mutations; myotonia