Echaniz-Laguna, Andoni <br/><br/>
Muscle phosphorylase b kinase deficiency revisited.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Feb 2010 
 - 125-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2009.11.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence--genetics<br/>Biopsy<br/>Brain--enzymology<br/>Codon, Nonsense--genetics<br/>Cognition Disorders--enzymology<br/>Creatine Kinase--blood<br/>DNA Mutational Analysis<br/>Electromyography<br/>Exercise Tolerance--genetics<br/>Glycogen Storage Disease Type V--complications<br/>Humans<br/>Intellectual Disability--enzymology<br/>Intelligence--genetics<br/>Male<br/>Muscle Weakness--enzymology<br/>Muscle, Skeletal--enzymology<br/>Phosphorylase Kinase--deficiency<br/>Protein Subunits--genetics