Ontology highlight
ABSTRACT:
SUBMITTER: Garg A
PROVIDER: S-EPMC4109545 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Garg Ankit A O'Rourke Jason J Long Chengzu C Doering Jonathan J Ravenscroft Gianina G Bezprozvannaya Svetlana S Nelson Benjamin R BR Beetz Nadine N Li Lin L Chen She S Laing Nigel G NG Grange Robert W RW Bassel-Duby Rhonda R Olson Eric N EN
The Journal of clinical investigation 20140624 8
Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains unresolved. Here, we demonstrated that loss of a muscle-specific protein, kelch-like family member 40 (KLHL40), results in a nemaline-like myopathy in mice that closely phenocopies muscle abnormalities ...[more]