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A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome

Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been i...

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Detalles Bibliográficos
Autores principales: Rinz, Caitlin J., Levine, Jonathan, Minor, Katie M., Humphries, Hammon D., Lara, Renee, Starr-Moss, Alison N., Guo, Ling T., Williams, D. Colette, Shelton, G. Diane, Clark, Leigh Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148433/
https://www.ncbi.nlm.nih.gov/pubmed/25166616
http://dx.doi.org/10.1371/journal.pone.0106425