Ravenscroft, Gianina <br/><br/>
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Feb 2013 
 - 165-9 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.2012.11.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Amino Acid Sequence<br/>Arthrogryposis--diagnosis<br/>Australia<br/>Biopsy<br/>Exome--genetics<br/>Fatal Outcome<br/>Female<br/>Genotype<br/>Glycogen Debranching Enzyme System--genetics<br/>Glycogen Storage Disease--diagnosis<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Malignant Hyperthermia--diagnosis<br/>Molecular Sequence Data<br/>Muscle, Skeletal--pathology<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Phenotype<br/>Skin Abnormalities--diagnosis