Ontology highlight
ABSTRACT:
SUBMITTER: Sambuughin N
PROVIDER: S-EPMC5148137 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Sambuughin Nyamkhishig N Swietnicki Wieslaw W Techtmann Stephen S Matrosova Vera V Wallace Tarina T Goldfarb Lev L Maynard Ernest E
Biochemical and biophysical research communications 20120420 4
Autosomal dominant mutations in BTB and Kelch domain containing 13 protein (KBTBD13) are associated with a new type of Nemaline Myopathy (NEM). NEM is a genetically heterogeneous group of muscle disorders. Mutations causing phenotypically distinct NEM variants have previously been identified in components of muscle thin filament. KBTBD13 is a muscle specific protein composed of an N terminal BTB domain and a C terminal Kelch-repeat domain. The function of this newly identified protein in muscle ...[more]