Johnson, Katherine <br/><br/>
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.  [electronic resource] 

 -  Orphanet journal of rare diseases  11 2017 
 - 173 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1750-1172 
<br/><br/><label>Standard No.: </label>10.1186/s13023-017-0722-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Aged, 80 and over<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>Female<br/>Genetic Variation--genetics<br/>Glycogen Storage Disease Type II--diagnosis<br/>Humans<br/>Male<br/>Middle Aged<br/>Muscle Weakness--diagnosis<br/>Muscular Dystrophies, Limb-Girdle--diagnosis<br/>Exome Sequencing--methods<br/>Young Adult<br/>alpha-Glucosidases--genetics