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Article

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

Neuromuscular disorders : NMD - 1 Apr 2012

Zielonka Daniel, Jurkat-Rott Karin, Stachowiak Paweł, Bryl Anna, Marcinkowski Jerzy T, Lehmann-Horn Frank

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22197187
DOI: 10.1016/j.nmd.2011.10.024

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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