| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6022489 | Neurobiology of Disease | 2012 | 7 Pages |
Abstract
⺠Episodic falling is a canine autosomal recessive paroxysmal hypertonicity disorder. ⺠We mapped the episodic falling locus to a 3.48 Mb region on canine chromosome 7. ⺠We found a novel microdeletion in BCAN encoding the proteoglycan brevican. ⺠Multiplex PCR and MLPA tests can distinguish normal, carrier and affected animals. ⺠BCAN mutations may underlie human exercise-induced hypertonicity disorders.
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Authors
Jennifer L. Gill, Kate L. Tsai, Christa Krey, Rooksana E. Noorai, Jean-François Vanbellinghen, Laurent S. Garosi, G. Diane Shelton, Leigh Anne Clark, Robert J. Harvey,