Article
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Human molecular genetics - 15 Dec 2013
Ha Kyungsoo, Buchan Jillian G, Alvarado David M, McCall Kevin, Vydyanath Anupama, Luther Pradeep K, Goldsmith Matthew I, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are associated with distal arthrogryposis type 1 and lethal congenital contracture syndrome type 4. As MYBPC1 function is incompletely understood, the mechanism by which human mutations result in contractures is unknown. Here, we demonstrate using antisense...
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