Scacheri, P C <br/><br/>
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.  [electronic resource] 

 -  Neurology  Feb 2002 
 - 593-602 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0028-3878 
<br/><br/><label>Standard No.: </label>10.1212/wnl.58.4.593  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Child<br/>Chromosomes, Human, Pair 21--genetics<br/>Collagen Type VI--genetics<br/>Female<br/>Humans<br/>Lod Score<br/>Male<br/>Middle Aged<br/>Muscle, Skeletal--metabolism<br/>Muscular Diseases--genetics<br/>Muscular Dystrophies--genetics<br/>Mutation--genetics<br/>Pedigree<br/>Phenotype