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Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies

Two unrelated 8‐month‐old male mixed breed dogs were presented for evaluation of progressive ataxia, knuckling, and lack of pain perception in the distal limbs. Because of the similarity in age of onset, progression, and clinical findings with previously described sensory neuropathy in Border Collie...

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Detalles Bibliográficos
Autores principales: Amengual‐Batle, Pablo, Rusbridge, Clare, José‐López, Roberto, Golini, Lorenzo, Shelton, G. Diane, Mellersh, Cathryn S., Gutierrez‐Quintana, Rodrigo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6272042/
https://www.ncbi.nlm.nih.gov/pubmed/30307654
http://dx.doi.org/10.1111/jvim.15312
Descripción
Sumario:Two unrelated 8‐month‐old male mixed breed dogs were presented for evaluation of progressive ataxia, knuckling, and lack of pain perception in the distal limbs. Because of the similarity in age of onset, progression, and clinical findings with previously described sensory neuropathy in Border Collies, the affected dogs were screened for an FAM134B mutation and were determined to be homozygous for the mutation. Despite few phenotypic similarities with other breeds, genetic testing for specific diseases should be considered in mixed breed dogs with compatible clinical signs, especially if ancestry is unknown.