Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes-Reference-Cited by-同舟云学术

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Published:2013-10 Issue: Volume:248 Page:530-540
ISSN:0014-4886
Container-title:Experimental Neurology
language:en
Short-container-title:Experimental Neurology

Author:

Desaphy Jean-François,Gramegna Gianluca,Altamura Concetta,Dinardo Maria Maddalena,Imbrici Paola,George Alfred L.,Modoni Anna,LoMonaco Mauro,Conte Camerino Diana

Funder

Comitato Telethon Fondazione Onlus

Association Française contre les Myopathies

Publisher

Elsevier BV

Subject

Developmental Neuroscience,Neurology

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2. Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2;Cardani;J. Neurol.,2012

3. Phenotypic variability in myotonia congenita;Colding-Jorgensen;Muscle Nerve,2005

4. Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative;Desaphy;Neurology,2001

5. Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block;Desaphy;J. Physiol.,2004

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