title: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
abstract: Autosomal-dominant and -recessive myotonia congenita are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). We searched for mutations in this gene in 20 unrelated families with myotonia congenita. We identified 11 different mutations in 10 families. Two of five new mutations (Ala313Thr and Ile556Asn) were both autosomal recessive and dominant with either reduced penetrance or incomplete dominance. Mutations in the CLCN1 gene do not therefore necessarily behave in a classic Mendelian manner.
authors.affiliation: INSERM CJF9608/U134, Hôpital de la Salpêtrière, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Plassart-Schiess
authors.forename: A
authors.initials: A
authors.lastname: Gervais
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: A
authors.initials: A
authors.lastname: Lagueny
authors.forename: J
authors.initials: J
authors.lastname: Pouget
authors.forename: J M
authors.initials: JM
authors.lastname: Warter
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: T J
authors.initials: TJ
authors.lastname: Jentsch
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
mesh_terms: D000328:Adult; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry; D009224:Myotonia Congenita / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D017354:Point Mutation
chemical_list: D018118:Chloride Channels; D017931:DNA Primers