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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Main Authors: Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda, Shelton, G. Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn
格式: Artigo
語言:Inglês
出版: Public Library of Science 2013
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Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675003/
https://ncbi.nlm.nih.gov/pubmed/23754947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003430
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