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

Item Type:Article
Title:Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance
Creators Name:Plassart-Schiess, E. and Gervais, A. and Eymard, B. and Lagueny, A. and Pouget, J. and Warter, J.M. and Fardeau, M. and Jentsch, T.J. and Fontaine, B.
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.
Keywords:Chloride Channels, DNA Mutational Analysis, DNA Primers, Family Health, Dominant Genes, Skeletal Muscle, Myotonia Congenita, Pedigree, Penetrance, Point Mutation
Source:Neurology
ISSN:0028-3878
Publisher:American Academy of Neurology (U.S.A.)
Volume:50
Number:4
Page Range:1176-1179
Date:April 1998
Official Publication:http://www.neurology.org/cgi/content/abstract/50/4/1176
PubMed:View item in PubMed

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