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Updated: May 16, 2026
Dissection of Single Skeletal Muscle Fibers for Immunofluorescent and Morphometric Analyses of Whole-Mount Neuromuscular Junctions
Published on: August 14, 2021
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics
Olayinka Raheem1, Sini Penttilä, Tiina Suominen
1Neuromuscular Research Unit, University of Tampere and Tampere University Hospital, Tampere, Finland. olayinka.raheem@uta.fi
Objective:
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.
Methods:
An immunohistochemical assay of sarcolemmal chloride channel abundance using 2 different ClC1-specific antibodies.
Results:
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.
Conclusions:
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.
