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Abstract

Type 1 polysaccharide storage myopathy (PSSM1) and malignant hyperthermia (MH) are autosomal dominant genetic diseases caused by a point mutation in equine GYS1 and RYR1, respectively. Although the prevalence of PSSM1 and MH have been described in other countries as causes of myopathy in horses,...

Author(s)
Delfiol, D. J. Z.; Oliveira Filho, J. P. de; Badial, P. R.; Battazza, A.; Araujo Junior, J. P.; Borges, A. S.
Publisher
Elsevier, New York, USA
Citation
Journal of Equine Veterinary Science, 2018, 70, pp 38-41
Abstract

Reasons for performing study: Exertional rhabdomyolysis (ER) is a reported syndrome in competing endurance horses; however, the prevalence and cause of ER in this population have not been defined. Objectives: To determine the prevalence of ER in a sample of endurance racing horses and investigate...

Author(s)
Wilberger, M. S.; McKenzie, E. C.; Payton, M. E.; Rigas, J. D.; Valberg, S. J.
Publisher
Wiley-Blackwell, Oxford, UK
Citation
Equine Veterinary Journal, 2015, 47, 2, pp 165-170
Abstract

Background: Anesthetic-induced malignant hyperthermia has been documented in Quarter Horses and is caused by a single-point mutation in the ryanodine receptor 1 gene at nucleotide C7360G generating a R2454G amino acid substitution. An accurate, faster molecular test that is less prone to...

Author(s)
Nieto, J. E.; Aleman, M.
Publisher
Blackwell Publishing, Oxford, UK
Citation
Journal of Veterinary Internal Medicine, 2009, 23, 3, pp 619-622
Abstract

Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malignant hyperthermia, central core disease,...

Author(s)
Fernandez-Fuente, M.; Terracciano, C. M.; Martin-Duque, P.; Brown, S. C.; Vassaux, G.; Piercy, R. J.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS ONE, 2014, 9, 8, pp e105971
AbstractFull Text

A 9-year-old Percheron mare is presented for caesarean section due to clinical dystocia during labor. Xylazine was employed during preanaesthesia, followed by induction with ketamine and diazepam, while anaesthetic maintenance was obtained with isoflurane. The mare showed good recovery, however 24...

Author(s)
Fredo, G.; Bassuino, D. M.; Bianchi, M. V.; Delfiol, D. J. Z.; Borges, A. S.; Pavarini, S. P.; Sonne, L.; Driemeier, D.
Publisher
Universidade Federal do Rio Grande do Sul, Faculdade de Veterinária, Porto Alegre, Brazil
Citation
Acta Scientiae Veterinariae, 2018, 46, Supplement, pp 346
Abstract

Background: Anesthetic-induced malignant hyperthermia (MH) has been documented in Quarter Horses with a single point mutation in the ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution. However, there have been no reports of nonanesthetic...

Author(s)
Aleman, M.; Nieto, J. E.; Magdesian, K. G.
Publisher
Blackwell Publishing, Oxford, UK
Citation
Journal of Veterinary Internal Medicine, 2009, 23, 2, pp 329-334
Abstract

The ryanodine receptor gene (RYR1) encodes one of three isoforms of ryanodine receptor responsible for intracellular metabolism of calcium ions. RyR1 is a candidate gene for equine malignant hyperthermia. Its mutation results in Ca2+ ions being rapidly released through the calcium channel to...

Author(s)
Fornal, A.; Piestrzyńska-Kajtoch, A.; Radko, A.; Rejduch, B.
Publisher
Instytut Zootechniki, Kraków, Poland
Citation
Roczniki Naukowe Zootechniki, 2014, 41, 2, pp 77-82
Abstract

This paper aims at the presentation of methods for treatment of ocular squamous cell carcinoma in horses. Ocular squamous cell carcinoma (SCC) affecting the eyelids, nictitians, conjunctiva, limbus and cornea is the most common ocular tumor in the horse. Ocular and adnexal SCCs are malignant,...

Author(s)
Warzecha, M.
Publisher
Krajowa Izba Lekarsko Weterynaryjna, Warszawa, Poland
Citation
Życie Weterynaryjne, 2013, 88, 4, pp 299-302
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,...

Author(s)
Finno, C. J.; Spier, S. J.; Valberg, S. J.
Publisher
Elsevier, Amsterdam, Netherlands
Citation
Veterinary Journal, 2009, 179, 3, pp 336-347
Abstract

This article describes the current approach used to investigate genetic diseases in horses and summarizes the current state of knowledge on the genetic basis of tying-up involving polysaccharide storage myopathy types 1 and 2 (PSSM1 and PSSM2), malignant hyperthermia, recurrent exertional...

Author(s)
Valberg, S. J.
Publisher
Australian Veterinary Association (N.S.W) Division, Artarmon, Australia
Citation
Australian Equine Veterinarian, 2011, 30, 4, pp 39-42

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