Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A

We analyzed developmental expression of myotilin, a novel sarcomeric compon ent mutated in limb-girdle muscular dystrophy 1A (LCMD1A). In situ hybridiz ation and immunostaining of embryonic mouse tissues revealed expression of myotilin initially (E9-10) in heart, somites and neuroepithelium. At E13 my otilin was expressed in a variety of tissues, including the nervous system, lung, liver and kidney, but upon organ differentiation expression became m ore restricted. The level of expression during early development is compara ble between mouse and human, indicating that the mouse may provide a model for further studying the functions of myotilin and the pathogenesis of LGMD 1A. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.