A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris

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• 作者：Daniel Zielonka^a ; ^{daniel.zielonka@gmail.com} ; Karin Jurkat-Rott^b ; Paweł ; Stachowiak^c ; Anna Bryl^d ; Jerzy T. Marcinkowski^a ; Frank Lehmann-Horn^b ; ¹
• 关键词：Chloride channel myotonia ; CLCN1-MLPA ; Prinzmetal angina
• 刊名：Neuromuscular Disorders
• 出版年：2012
• 期刊代码：203_09608966
• 类别：med
• 出版时间：April, 2012
• 卷：22
• 期：4
• 页码：355-360
• 文件大小：1169 K

摘要

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.