Equine diseases caused by known genetic mutations

Carrie J Finno, Sharon Spier, Stephanie J. Valberg

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

Abstract

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
Volume179
Issue number3
DOIs
StatePublished - Mar 2009

Keywords

  • Genetics
  • Hereditary
  • Horse
  • Mutations

ASJC Scopus subject areas

  • Animal Science and Zoology
  • veterinary(all)

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