Strang-Karlsson, Sonja <br/><br/>
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.  [electronic resource] 

 -  Neuromuscular disorders : NMD  07 2018 
 - 614-618 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2018.04.012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Dystroglycans--metabolism<br/>Female<br/>Humans<br/>Male<br/>Muscle Weakness--genetics<br/>Muscle, Skeletal--metabolism<br/>Muscular Dystrophies, Limb-Girdle--genetics<br/>Mutation, Missense<br/>Protein Kinases--genetics<br/>Siblings