Mroczek, Magdalena <br/><br/>
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.  [electronic resource] 

 -  Neuromuscular disorders : NMD  04 2020 
 - 310-314 p.  digital 
<br/><br/> Publication Type: Case Reports; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Journal Article 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2020.02.006  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenylosuccinate Synthase--genetics<br/>Adolescent<br/>Adult<br/>Consanguinity<br/>Distal Myopathies--genetics<br/>Female<br/>Humans<br/>India<br/>Male<br/>Pedigree<br/>Phenotype<br/>Turkey