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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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 |