Article
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization.
Muscle & nerve - 1 Jul 2005
Paradas Carmen, Márquez Celedonio, Gallardo Eduard, De Luna Noemí, Chinchón Isidoro, Recan Dominique, Jiménez María Dolores, Illa Isabel
Abstract excerpt
We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.