Article
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
The Journal of clinical investigation - 1 Mar 2014
Cowling Belinda S, Chevremont Thierry, Prokic Ivana, Kretz Christine, Ferry Arnaud, Coirault Catherine, Koutsopoulos Olga, Laugel Vincent, Romero Norma B, Laporte Jocelyn
Abstract excerpt
Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and abnormally located nuclei in skeletal muscle. An autosomal dominant form of CNM results from mutations in the gene encoding dynamin 2 (DNM2), and loss-of-function mutations in the gene encoding myotubularin (MTM1) result in X-linked CNM (XLCNM, also called myotubular myopathy), which promotes severe neonatal hypotonia and...
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