PubMed 9566422

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: ClvC1 , ClvC4

Title: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.

Authors: E Plassart-Schiess, A Gervais, B Eymard, A Lagueny, J Pouget, J M Warter, M Fardeau, T J Jentsch, B Fontaine

Journal, date & volume: Neurology, 1998 Apr , 50, 1176-9

PubMed link:

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.