Pandey, R <br/><br/>
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy.  [electronic resource] 

 -  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society  Jan 2011 
 - 70-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1532-2130 
<br/><br/><label>Standard No.: </label>10.1016/j.ejpn.2010.04.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Biopsy<br/>Child<br/>Chromosomes, Human, Pair 5--genetics<br/>Genetic Predisposition to Disease--genetics<br/>Humans<br/>Male<br/>Mutation--genetics<br/>Myopathy, Central Core--genetics<br/>Ryanodine Receptor Calcium Release Channel--genetics<br/>Spinal Muscular Atrophies of Childhood--genetics<br/>Young Adult