Title: | Danon disease : Further clinical and molecular heterogeneity |
Journal : | Muscle & Nerve, 39, 6 |
Authors: | Sabourdy F ; Michelakakis H ; Anastasakis A ; Garcia V ; Mavridou I ; Nieto M ; Pons MC ; Skiadas C ; Moraitou M ; Manta P ; Elleder M ; Levade T |
Material Type: | Article |
Publication Date: | 2009 |
Size: | p. 837-844 |
Languages: | English |
Keywords : | alpha-galactosidase ; cardiomyopathy ; case studies ; cell cultures ; Danon disease ; enzyme activity ; Fabry disease ; family trees ; histochemistry ; immunocytochemistry ; LAMP2 gene ; molecular genetics ; muscle biopsies ; phenotypic heterogeneity ; RNA ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/19373884?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum |
Pubmed / DOI : | DOI : 10.1002/mus.21252 |