Abstract
<h2>Abstract</h2> Most patients with myotonia have either congenital myotonia caused by mutated chloride or sodium channel, or progressive myotonic dystrophy (types 1 and 2). Currently, final diagnosis is frequently obtained by molecular genetic DNA testing. However, the increased use of genetic testing also results in many cases when the tests do not provide full clarification of the clinical disease. An immunohistochemical method using two different chloride channel protein specific antibodies for diagnostic purposes This method provided means to identify new mutations, to reclassify the W118G CLCN1 change as a moderately pathogenic mutation, and to clarify recessive Becker myotonia in cases when only one recessive mutation was identified by genetic testing. The developed immunohistochemical staining method for CLC-1 in muscle fibers proved to be a robust method for the detection of presence or loss of sarcolemmal CLC-1 protein on muscle sections. This in combination with gene sequencing is a powerful approach to achieving a final diagnosis of non-dystrophic myotonia.
Published Version
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