PubMed 23152584

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: ClvC1 , ClvC4

Title: New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Authors: Olayinka Raheem, Sini Penttilä, Tiina Suominen, Mika Kaakinen, James Burge, Andrea Haworth, Richa Sud, Stephanie Schorge, Hannu Haapasalo, Satu Sandell, Kalervo Metsikkö, Michael Hanna, Bjarne Udd

Journal, date & volume: Neurology, 2012 Nov 27 , 79, 2194-200

PubMed link:

The objective of this study was to validate the immunohistochemical assay for the diagnosis of nondystrophic myotonia and to provide full clarification of clinical disease to patients in whom basic genetic testing has failed to do so.An immunohistochemical assay of sarcolemmal chloride channel abundance using 2 different ClC1-specific antibodies.This method led to the identification of new mutations, to the reclassification of W118G in CLCN1 as a moderately pathogenic mutation, and to confirmation of recessive (Becker) myotonia congenita in cases when only one recessive CLCN1 mutation had been identified by genetic testing.We have developed a robust immunohistochemical assay that can detect 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 nondystrophic myotonia.