Dlamini, Nomazulu <br/><br/>
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.  [electronic resource] 

 -  Neuromuscular disorders : NMD  May 2013 
 - 391-8 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.2013.02.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Arthrogryposis--genetics<br/>Fatal Outcome<br/>Genes, X-Linked--genetics<br/>Genetic Diseases, X-Linked--genetics<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation--genetics<br/>SMN Complex Proteins--genetics<br/>Spinal Muscular Atrophies of Childhood--complications<br/>Ubiquitin-Activating Enzymes--genetics