Article
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
PloS one - 1 Jan 2012
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
Abstract excerpt
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 these genes revealed common defects in all forms of CNM, paving the way for unified pathogenic and therapeutic...
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