Foley, A Reghan <br/><br/>
Autosomal recessive inheritance of classic Bethlem myopathy.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Dec 2009 
 - 813-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2009.09.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>Collagen Type VI--genetics<br/>Dermis--metabolism<br/>Exons<br/>Fibroblasts--metabolism<br/>Genes, Recessive<br/>Heterozygote<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Muscular Diseases--genetics<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Sequence Deletion<br/>Sequence Homology, Amino Acid