Equine diseases caused by known genetic mutations

Carrie J. Finno, Sharon J. Spier, Stephanie J. Valberg

Research output: Contribution to journalReview articlepeer-review

48 Scopus citations


The recent development of equine genome maps by the equine genome community and the complete sequencing of the horse genome performed at the Broad Institute have accelerated the pace of genetic discovery. This review focuses on genetic diseases in the horse for which a mutation is currently known, including hyperkalemic periodic paralysis, severe combined immunodeficiency, overo lethal white syndrome, junctional epidermolysis bullosa, glycogen branching enzyme deficiency, malignant hyperthermia, hereditary equine regional dermal asthenia, and polysaccharide storage myopathy. Emphasis is placed on the prevalence, clinical signs, etiology, diagnosis, treatment and prognosis for each disease.

Original languageEnglish (US)
Pages (from-to)336-347
Number of pages12
JournalVeterinary Journal
Issue number3
StatePublished - Mar 1 2009


  • Genetics
  • Hereditary
  • Horse
  • Mutations


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