Ontology highlight
ABSTRACT:
SUBMITTER: Ackermann MA
PROVIDER: S-EPMC3714579 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Ackermann Maegen A MA Patel Puja D PD Valenti Jane J Takagi Yasuharu Y Homsher Earl E Sellers James R JR Kontrogianni-Konstantopoulos Aikaterini A
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 20130508 8
Myosin binding protein C (MyBP-C) is expressed in striated muscles, where it plays key roles in the modulation of actomyosin cross-bridges. Slow MyBP-C (sMyBP-C) consists of multiple variants sharing common domains but also containing unique segments within the NH2 and COOH termini. Two missense mutations in the NH2 terminus (W236R) and COOH terminus (Y856H) of sMyBP-C have been causally linked to the development of distal arthrogryposis-1 (DA-1), a severe skeletal muscle disorder. Using a combi ...[more]