Se descubre la mutación genética que provoca la distrofia muscular en el CKCS
La carta que les adjunto fue publicada en Vet Record, el 11 de julio de 2009
"MUSCULAR DYSTROPHY IN CKCS
We have recently identified the genetic cause of a form of muscular dystrophy in CKCS. The causative mutation is in the dystrophin gene and the X-linked disease is associated with weakness, muscle atrophy and exercise intolerance, detectable from a few months of age. Prominent signs in affected dogs are dysphagia and macroglossia (enlarged tongue). Serum creatine kinase is usually markedly elevated. Male dogs with the mutation clinically affected and female dogs with the mutation are silent carriers.
We are also keen to hear from veterinary surgeons who believe they may have seen an affected dog in their practice, in order to estimate the prevalence of this disease and limit its spread by genetic testing.
Richard J Piercy, Gemma Walmsley, Dept of Veterinary Clinical Sciences, RVC, North Mymms, Hatfield, Herts, AL9 7TA
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