Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide

Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ∼70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families. Analysis of animal models with altered expression of...

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Detalles Bibliográficos
Autores principales: Maurer, Marie, Mary, Jérôme, Guillaud, Laurent, Fender, Marilyn, Pelé, Manuel, Bilzer, Thomas, Olby, Natasha, Penderis, Jacques, Shelton, G. Diane, Panthier, Jean-Jacques, Thibaud, Jean-Laurent, Barthélémy, Inès, Aubin-Houzelstein, Geneviève, Blot, Stéphane, Hitte, Christophe, Tiret, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3465307/
https://www.ncbi.nlm.nih.gov/pubmed/23071563
http://dx.doi.org/10.1371/journal.pone.0046408

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