Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Calpain 3 plays different roles in muscular cells, but little is known about its functions or in vivo substrates. The aim of this study was to identify the genes showing an altered expression in LGMD2A patients and the possible pathways they are implicated in.
View Article and Find Full Text PDFPurpose: The purpose of this study was to develop a new protocol for the performance of jerk tests under anesthesia, and to study its correlation to intra-articular pathology and the diagnosis of a lax or unstable shoulder.
Type Of Study: Prospective controlled study.
Methods: We performed a systematic examination, in the office as well as under anesthesia, of 300 patients (600 shoulders) divided into 3 homogeneous groups: 100 presented with instability resulting from recurrent dislocation of one or both shoulders, 100 presented with alternative shoulder symptomatology without signs of instability, and a further 100 underwent surgery for other locomotor system pathologies.