title: A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.
abstract: Becker myotonia is a recessive muscle disease with prevalence of > 1:50,000. It is caused by markedly reduced function of the chloride channel encoded by CLCN1. We describe a Polish patient with severe myotonia, transient weakness, and muscle cramps who only responds to lidocaine. In addition, the patient has Prinzmetal angina pectoris and multiple lipomatosis. He is compound heterozygeous for a novel p.W303X and a frequent p.R894X CLCN1 mutation. CLCN1 exon number variation was excluded by MLPA. His son with latent myotonia was heterozygeous for p.R894X. We discuss the potential relations of the three rare diseases and the inheritance of p.R894X.
authors.affiliation: Department of Social Medicine, Poznan University of Medical Sciences, Poland, Rokietnicka Str., 5 C, 60-806 Poznan, Poland. daniel.zielonka@gmail.com
authors.forename: Daniel
authors.initials: D
authors.lastname: Zielonka
authors.forename: Karin
authors.initials: K
authors.lastname: Jurkat-Rott
authors.forename: Paweł
authors.initials: P
authors.lastname: Stachowiak
authors.forename: Anna
authors.initials: A
authors.lastname: Bryl
authors.forename: Jerzy T
authors.initials: JT
authors.lastname: Marcinkowski
authors.forename: Frank
authors.initials: F
authors.lastname: Lehmann-Horn
mesh_terms: D000787:Angina Pectoris / Q000150:complications / Q000235:genetics; D000788:Angina Pectoris, Variant / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D018118:Chloride Channels / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation; D009224:Myotonia Congenita / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels