Article
Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc - 1 Jan 2011
Gentilini Fabio, Zambon Elisa, Gandini Gualtiero, Rosati Marco, Spadari Alessandro, Romagnoli Noemi, Turba Maria Elena, Gernone Floriana
Abstract excerpt
Centronuclear myopathy (CNM) is an autosomal recessive hereditary disease affecting Labrador Retriever dogs. The disease is characterized by muscle lesions, typically encompassing reduction in the number and atrophy of type II fibers, and is caused by a short interspersed repeat element insertion in exon 2 of the protein tyrosine phosphatase-like member A. The actual allele frequency is unknown; a study was...
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