Castro-Gago, Manuel <br/><br/>
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.  [electronic resource] 

 -  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society  Nov 2014 
 - 796-800 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1532-2130 
<br/><br/><label>Standard No.: </label>10.1016/j.ejpn.2014.06.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Choline Kinase--genetics<br/>DNA, Mitochondrial--genetics<br/>Exome--genetics<br/>Humans<br/>Male<br/>Metabolism, Inborn Errors--complications<br/>Mitochondrial Myopathies--complications<br/>Mutation--genetics<br/>Spain