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A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome

An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx and Devon Rex cat breeds (Felis catus). Collection of data from two affected Sphynx...

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Detalles Bibliográficos
Autores principales: Abitbol, Marie, Hitte, Christophe, Bossé, Philippe, Blanchard-Gutton, Nicolas, Thomas, Anne, Martignat, Lionel, Blot, Stéphane, Tiret, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556666/
https://www.ncbi.nlm.nih.gov/pubmed/26327126
http://dx.doi.org/10.1371/journal.pone.0137019