Article
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Human mutation - 1 Sept 2006
Goudeau Bertrand, Rodrigues-Lima Fernando, Fischer Dirk, Casteras-Simon Monique, Sambuughin Nyamkhishig, de Visser Marianne, Laforet Pascal, Ferrer Xavier, Chapon Françoise, Sjöberg Gunnar, Kostareva Anna, Sejersen Thomas, Dalakas Marinos C, Goldfarb Lev G, Vicart Patrick
Abstract excerpt
Mutations in the desmin gene have been recognized as a cause of desminopathy, a familial or sporadic disorder characterized by skeletal muscle weakness, often associated with cardiomyopathy or respiratory insufficiency. Distinctive histopathologic features include aberrant intracytoplasmic accumulation of desmin (DES). We present here comparative phenotypic, molecular, and functional characteristics of four novel...
Topics
Join the communities discussing this publication.