title: Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.
abstract: Myotonia congenita is an inherited muscle disorder characterized by muscle stiffness and hypertrophy. Its clinical phenotype depends, in part, on whether it is inherited as a dominant or recessive trait, respectively designated Thomsen's disease or Becker's generalized myotonia (BGM). In either case, it is associated with abnormalities in the muscle currents that are linked to the gene (CLCN-1) on human chromosome 7q35 encoding the skeletal muscle chloride channel. Single-strand conformation polymorphism analysis was used to screen two families with the BGM for mutations in the CLCN-1 gene. Two new mutations were found (G 201ins and A317Q). The latter mutation has been previously described in Thomsen's disease.
authors.affiliation: Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Charlestown 02129, USA.
authors.forename: J
authors.initials: J
authors.lastname: Esteban
authors.forename: A M
authors.initials: AM
authors.lastname: Neumeyer
authors.forename: D
authors.initials: D
authors.lastname: McKenna-Yasek
authors.forename: R H
authors.initials: RH
authors.lastname: Brown
mesh_terms: D019943:Amino Acid Substitution; D018118:Chloride Channels / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic
chemical_list: D018118:Chloride Channels; D004247:DNA