Mercuri, E <br/><br/>
POMT2 mutation in a patient with 'MEB-like' phenotype.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Jul 2006 
 - 446-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0960-8966 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2006.03.016  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Child<br/>Female<br/>Heterozygote<br/>Humans<br/>Hypertrophy<br/>Intellectual Disability--genetics<br/>Magnetic Resonance Imaging<br/>Mannosyltransferases--genetics<br/>Microcephaly--genetics<br/>Molecular Sequence Data<br/>Muscle, Skeletal--pathology<br/>Muscular Dystrophies--congenital<br/>Phenotype<br/>Point Mutation