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. 2001 May;103(1-2):121-5.
doi: 10.1016/s0925-4773(01)00325-2.

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

L Mologni  1 , P Salmikangas, F Fougerousse, J S Beckmann, O Carpén
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Free article

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

L Mologni et al. Mech Dev. 2001 May.
Free article

Abstract

We analyzed developmental expression of myotilin, a novel sarcomeric component mutated in limb-girdle muscular dystrophy 1A (LGMD1A). In situ hybridization and immunostaining of embryonic mouse tissues revealed expression of myotilin initially (E9-10) in heart, somites and neuroepithelium. At E13 myotilin was expressed in a variety of tissues, including the nervous system, lung, liver and kidney, but upon organ differentiation expression became more restricted. The level of expression during early development is comparable between mouse and human, indicating that the mouse may provide a model for further studying the functions of myotilin and the pathogenesis of LGMD1A.

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