Biasini, F <br/><br/>
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.  [electronic resource] 

 -  Neuromuscular disorders : NMD   
 - 312-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2016.02.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aged<br/>Early Diagnosis<br/>Family<br/>Humans<br/>Italy<br/>Male<br/>Muscular Atrophy, Spinal--diagnosis<br/>Point Mutation<br/>Skeleton--abnormalities<br/>TRPV Cation Channels--genetics<br/>Young Adult