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

Détails

ID Serval
serval:BIB_81A468FC0910
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A
Périodique
Mechanisms of Development
Auteur⸱e⸱s
Mologni  L., Salmikangas  P., Fougerousse  F., Beckmann  J. S., Carpen  O.
ISSN
0925-4773 (Print)
Statut éditorial
Publié
Date de publication
05/2001
Volume
103
Numéro
1-2
Pages
121-5
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Résumé
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.
Mots-clé
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
Oui
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 15:41
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