Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly progressive muscle disorder typically showing abnorma...

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Bibliographic Details
Main Authors: Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S Cowling, G Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-06-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3675003?pdf=render

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http://europepmc.org/articles/PMC3675003?pdf=render

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