Molecular basis of myotonic disorders and new diagnostic techniques (Pehmeäkantinen kirja)

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In this thesis work, the developed immunohistochemical staining method for chloride channel protein (ClC-1) in muscle fibers proved to be a robust method for the assessment of sarcolemmal ClC-1 protein on muscle sections. This method provided means to identify new mutations, to reclassify the W118G CLCN1 change as a moderately pathogenic mutation, and to clarify the final diagnosis in myotonia patients in whom only one recessive mutation had been identified by genetic testing. The methods developed in this thesis work combined with genetic testing are powerful approaches to achieving final diagnosis in patients with myotonic disorders. Comprehensive understanding of the molecular pathomechanisims of genetic diseases is also one of the pre-requisites for the future development of therapeutical options.
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