Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
Page 1 of 1
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
Jon Moulton Fri Feb 22, 2013 11:34 am
Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19.
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
Similar topics» Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
» Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3
» Knock-down of Cathepsin D in zebrafish fertilized eggs determines congenital myopathy
» Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
» Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
» Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3
» Knock-down of Cathepsin D in zebrafish fertilized eggs determines congenital myopathy
» Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
» Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum