Compton, Alison G <br/><br/>
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.  [electronic resource] 

 -  American journal of human genetics  Dec 2008 
 - 714-24 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2008.10.022  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Base Sequence<br/>Case-Control Studies<br/>Cell Adhesion Molecules, Neuronal--genetics<br/>Chromosome Breakage<br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 12<br/>Cohort Studies<br/>Consanguinity<br/>Conserved Sequence<br/>Contactin 1<br/>Contactins<br/>DNA Mutational Analysis<br/>Dystrophin-Associated Proteins--genetics<br/>Female<br/>Genetic Linkage<br/>Genetic Markers<br/>Haplotypes<br/>Homozygote<br/>Humans<br/>Immunohistochemistry<br/>Infant<br/>Male<br/>Microsatellite Repeats<br/>Molecular Sequence Data<br/>Muscle, Skeletal--chemistry<br/>Mutation<br/>Myasthenic Syndromes, Congenital--genetics<br/>Neuromuscular Junction--genetics<br/>Pedigree<br/>Sarcolemma--metabolism<br/>Sarcomeres--pathology