Article
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Neuropediatrics - 1 Dec 2023
Panicucci Chiara, Casalini Sara, Traverso Monica, Brolatti Noemi, Baratto Serena, Raffaghello Lizzia, Pedemonte Marina, Doglio Luca, Derchi Maria, Tasca Giorgio, Damasio Beatrice M, Fiorillo Chiara, Bruno Claudio
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. A clear definition...
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