Bevilacqua, J A <br/><br/>
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.  [electronic resource] 

 -  Neuropathology and applied neurobiology  Apr 2011 
 - 271-84 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1365-2990 
<br/><br/><label>Standard No.: </label>10.1111/j.1365-2990.2010.01149.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Cell Nucleus--metabolism<br/>Child<br/>Female<br/>Genes, Recessive<br/>Humans<br/>Immunohistochemistry<br/>Male<br/>Microscopy, Electron, Transmission<br/>Mutation<br/>Myofibrils--ultrastructure<br/>Myopathy, Central Core--genetics<br/>Pedigree<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Ryanodine Receptor Calcium Release Channel--genetics<br/>Young Adult