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

ABSTRACT:

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 prot

SUBMITTER: Raheem O 

PROVIDER: S-EPMC3570820 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature