Article
Danon disease: further clinical and molecular heterogeneity.
Muscle & nerve - 1 Jun 2009
Sabourdy Frédérique, Michelakakis Helen, Anastasakis Aris, Garcia Virginie, Mavridou Irene, Nieto Michèle, Pons Marie-Claude, Skiadas Constantinos, Moraitou Marina, Manta Panagiota, Elleder Milan, Levade Thierry
Abstract excerpt
Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The LAMP2 mutation carried by one patient (c.928G>A) has already been reported but with different symptoms. The second patient had a novel point deletion. This has not been described...
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