Ontology highlight
ABSTRACT:
SUBMITTER: Ha K
PROVIDER: S-EPMC3836476 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Ha Kyungsoo K Buchan Jillian G JG Alvarado David M DM McCall Kevin K Vydyanath Anupama A Luther Pradeep K PK Goldsmith Matthew I MI Dobbs Matthew B MB Gurnett Christina A CA
Human molecular genetics 20130719 24
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 morpholino knockdown, that mybpc1 is required for embryonic motor activity and surv ...[more]