Mazón, María J <br/><br/>
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Mar 2012 
 - 231-43 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2011.10.013  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Biophysical Phenomena--genetics<br/>Biophysics<br/>Cell Line, Transformed<br/>Child<br/>Chloride Channels--genetics<br/>Electric Stimulation<br/>Electromyography<br/>Family Health<br/>Female<br/>Genetic Testing--methods<br/>Humans<br/>Male<br/>Membrane Potentials--genetics<br/>Middle Aged<br/>Mutagenesis, Site-Directed<br/>Mutation--genetics<br/>Myotonia--diagnosis<br/>Patch-Clamp Techniques<br/>Spain<br/>Transfection<br/>Young Adult