title: A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
abstract: We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his family revealed that his asymptomatic son also shared the mutation. We conclude that a novel chloride channel mutation (G1652A) has caused a mild form of autosomal-dominant myotonia congenita (Thomsen disease) in this family.
authors.affiliation: Department of Neurology, Royal North Shore Hospital and University of Sydney, St. Leonards, New South Wales 2065, Australia.
authors.forename: Kishore R
authors.initials: KR
authors.lastname: Kumar
authors.forename: Karl
authors.initials: K
authors.lastname: Ng
authors.forename: Himesha
authors.initials: H
authors.lastname: Vandebona
authors.forename: Mark R
authors.initials: MR
authors.lastname: Davis
authors.forename: Carolyn M
authors.initials: CM
authors.lastname: Sue
mesh_terms: D018118:Chloride Channels / Q000235:genetics*; D004558:Electric Stimulation; D004576:Electromyography; D005080:Exercise Test; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009224:Myotonia Congenita / Q000235:genetics* / Q000503:physiopathology; D009431:Neural Conduction / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels