Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapid...
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide
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Author / Creator
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 and Tiret, Laurent
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 o...
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Full title
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide
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Record Identifier
TN_cdi_plos_journals_1326720473
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1326720473
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0046408
