Equine diseases caused by known genetic mutations

Carrie J Finno, Sharon Spier, Stephanie J. Valberg

Research output: Contribution to journalArticle

42 Citations (Scopus)

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

Fingerprint

Horse Diseases
horse diseases
Horses
mutation
horses
Mutation
Genome
genome
Glycogen Storage Disease Type IV
Hyperkalemic Periodic Paralysis
Junctional Epidermolysis Bullosa
epidermolysis bullosa
enzyme deficiencies
severe combined immunodeficiency
1,4-alpha-glucan branching enzyme
malignant hyperthermia
Asthenia
Severe Combined Immunodeficiency
Malignant Hyperthermia
Inborn Genetic Diseases

Keywords

  • Genetics
  • Hereditary
  • Horse
  • Mutations

ASJC Scopus subject areas

  • Animal Science and Zoology
  • veterinary(all)

Cite this

Equine diseases caused by known genetic mutations. / Finno, Carrie J; Spier, Sharon; Valberg, Stephanie J.

In: Veterinary Journal, Vol. 179, No. 3, 03.2009, p. 336-347.

Research output: Contribution to journalArticle

Finno, Carrie J ; Spier, Sharon ; Valberg, Stephanie J. / Equine diseases caused by known genetic mutations. In: Veterinary Journal. 2009 ; Vol. 179, No. 3. pp. 336-347.
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