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

Details

Serval ID
serval:BIB_81A468FC0910
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A
Journal
Mechanisms of Development
Author(s)
Mologni  L., Salmikangas  P., Fougerousse  F., Beckmann  J. S., Carpen  O.
ISSN
0925-4773 (Print)
Publication state
Published
Issued date
05/2001
Volume
103
Number
1-2
Pages
121-5
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
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.
Keywords
Animals Cytoskeletal Proteins Embryo/*metabolism Humans Immunohistochemistry In Situ Hybridization Mice Muscle Proteins/*biosynthesis/*genetics Muscular Dystrophies/*genetics Tissue Distribution
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 17:17
Last modification date
20/08/2019 15:41
Usage data