Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes.

@article{AtenciaFernandez2015MuscularDI,
  title={Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes.},
  author={Sabela Atencia-Fernandez and Robert E. Shiel and Carmel T. Mooney and Catherine S. Nolan},
  journal={Animal genetics},
  year={2015},
  volume={46 2},
  pages={175-84}
}
An X-linked muscular dystrophy, with deficiency of full-length dystrophin and expression of a low molecular weight dystrophin-related protein, has been described in Japanese Spitz dogs. The aim of this study was to identify the causative mutation and develop a specific test to identify affected cases and carrier animals. Gene expression studies in skeletal muscle of an affected animal indicated aberrant expression of the Duchenne muscular dystrophy (dystrophin) gene and an anomaly in intron 19… CONTINUE READING