Jahnke, Van E; Peterson, Jennifer M; Van Der Meulen, Jack H; Boehler, Jessica; Uaesoontrachoon, Kitipong; Johnston, Helen K; Defour, Aurelia; Phadke, Aditi; Yu, Qing; Jaiswal, Jyoti K; Nagaraju, Kanneboyina
description
Nonsense or loss-of-function mutations in the non-lysosomal cysteine protease calpain-3 result in limb-girdle muscular dystrophy type 2A (LGMD2A). While calpain-3 is implicated in muscle cell differentiation, sarcomere formation, and muscle cytoskeletal remodeling, the physiological basis for LGMD2A has remained elusive.
