Article
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Mar 2007
Robinson Paul, Lipscomb Simon, Preston Laura C, Altin Elissa, Watkins Hugh, Ashley Christopher C, Redwood Charles S
Abstract excerpt
Distal arthrogryposes (DAs) are a group of disorders characterized by congenital contractures of distal limbs without overt neurological or muscle disease. Unexpectedly, mutations in genes encoding the fast skeletal muscle regulatory proteins troponin T (TnT), troponin I (TnI), and beta-tropomyosin (beta-TM) have been shown to cause autosomal dominant DA. We tested how these mutations affect contractile function...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.