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Abstract

Objective: Exercise induced metabolic myopathy in German Hunting Terrier dogs is an autosomal-recessively inherited disorder, caused by a nonsense variant of the gene encoding for the very long-chain acyl-CoA-dehydrogenase (VLCAD) enzyme. Clinical signs include exercise- induced fatigue, muscle...

Author(s)
Mühlhause, F.; Tipold, A.; Rohn, K.; Lepori, V.; Leeb, T.; Sewell, A. C.; Kornberg, M.
Publisher
Georg Thieme Verlag KG, Stuttgart, Germany
Citation
Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere, 2019, 47, 6, pp 402-410
Abstract

Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German Hunting Terriers with 10 dogs affected by...

Author(s)
Lepori, V.; Mühlhause, F.; Sewell, A. C.; Vidhya Jagannathan; Janzen, N.; Rosati, M.; Sousa, F. M. M. A. de; Tschopp, A.; Schüpbach, G.; Matiasek, K.; Tipold, A.; Leeb, T.; Kornberg, M.
Publisher
Genetics Society of America, Bethesda, USA
Citation
G3: Genes, Genomes, Genetics, 2018, 8, 5, pp 1545-1554
Abstract

Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly progressive muscle disorder typically showing...

Author(s)
Böhm, J.; Vasli, N.; Maurer, M.; Cowling, B.; Shelton, G. D.; Kress, W.; Toussaint, A.; Prokic, I.; Schara, U.; Anderson, T. J.; Weis, J.; Tiret, L.; Laporte, J.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS Genetics, 2013, 9, 6, pp e1003430
Abstract

A hereditary, non-inflammatory myopathy occurring in young great Danes with distinctive histological features in muscle biopsy specimens is reviewed. Onset of clinical signs is usually before one year of age and both sexes are affected. Clinical signs are characterised by exercise intolerance,...

Author(s)
Feliu-Pascual, A. L.; Shelton, G. D.; Targett, M. P.; Long, S. N.; Comerford, E. J.; McMillan, C.; Davies, D.; Rusbridge, C.; Mellor, D.; Chang, K. C.; Anderson, T. J.
Publisher
Blackwell Publishing, Oxford, UK
Citation
Journal of Small Animal Practice, 2006, 47, 5, pp 249-254
Abstract

This issue contains conference papers on per rectum palpation for pregnancy diagnosis in horses; breeding soundness evaluation for sheep, goats and cervids; canine inherited myopathy; improvements in equine semen processing techniques; monitoring, surveillance and impact of equine sexually...

Publisher
The Society for Theriogenology, Montgomery, USA
Citation
Clinical Theriogenology, 2016, 8, 4, pp 431-482
Abstract

The domestic dog (Canis familiaris) segregates more naturally-occurring diseases and phenotypic variation than any other species and has become established as an unparalled model with which to study the genetics of inherited traits. We used a genome-wide association study (GWAS) and targeted...

Author(s)
Forman, O. P.; Penderis, J.; Hartley, C.; Hayward, L. J.; Ricketts, S. L.; Mellersh, C. S.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS Genetics, 2012, 8, 1, pp e1002462
Abstract

Background: Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic. Causative mutations have been identified in 4 breeds including the Labrador Retriever, Jack Russell Terrier, Heideterrier, and...

Author(s)
Tsai, K. L.; Vernau, K. M.; Winger, K.; Zwueste, D. M.; Sturges, B. K.; Knipe, M.; Williams, D. C.; Anderson, K. J.; Evans, J. M.; Guo, L. T.; Clark, L. A.; Shelton, G. D.
Publisher
Wiley, Boston, USA
Citation
Journal of Veterinary Internal Medicine, 2020, 34, 1, pp 258-265
Abstract

Muscle-type phosphofructokinase deficiency (PFKD) causes a hemolytic disorder and exertional myopathy in humans and dogs. In humans, PFKD is accompanied by a disturbed calcium homeostasis and associated adenine nucleotide dysregulation, which may potentiate the erythroenzymopathy associated with...

Author(s)
Sabina, R. L.; Woodliff, J. E.; Giger, U.
Publisher
Springer Science + Business Media, London, UK
Citation
Comparative Clinical Pathology, 2008, 17, 2, pp 117-123
Abstract

X-linked canine muscular dystrophy is the most common and studied inherited myopathy characterized by the absence, decrease or change of a cytoskeletal protein, the dystrophin. The clinical manifestations are usually observed between the sixth and eighth week of life, primarily involving members...

Author(s)
Oliveira, K. M.; Siano, G. F.; Rosado, I. R.; Silva, C. M. O.; Taguchi, T. M.; Melo, E. G.
Publisher
Universidade Federal Rural de Pernambuco, Recife, Brazil
Citation
Medicina Veterinária (Brasil), 2013, 7, 1, pp 1-10
Abstract

The clinical signs and the histopathological features in the left cranial tibial muscle of a 10-month-old male Great Dane in Australia [date not given] with inherited myopathy of Great Danes (IMGD) are described. Oral L-carnitine and coenzyme Q10 were administered to improve exercise tolerance,...

Author(s)
Davies, S. E.; Davies, D. R.; Richards, R. B.; Bruce, W. J.
Publisher
Blackwell Publishing, Oxford, UK
Citation
Australian Veterinary Journal, 2008, 86, 1/2, pp 43-45

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