Article
DMD and West syndrome.
Neuromuscular disorders : NMD - 1 Oct 2017
Cardas Ruxandra, Iliescu Catrinel, Butoianu Nina, Seferian Andreea, Gataullina Svetlana, Gargaun Elena, Nectoux Juliette, Bienvenu Thierry, Craiu Dana, Gidaro Teresa, Servais Laurent
Abstract excerpt
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral...
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