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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

Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated muscle-specific enzyme in more differentiated...

Author(s)
Walmsley, G. L.; Blot, S.; Venner, K.; Sewry, C.; Laporte, J.; Blondelle, J.; Barthélémy, I.; Maurer, M.; Blanchard-Gutton, N.; Pilot-Storck, F.; Tiret, L.; Piercy, R. J.
Publisher
Elsevier B. V., Amsterdam, Netherlands
Citation
American Journal of Pathology, 2017, 187, 2, pp 441-456
Abstract

Background: Noninvasive methods of quantitating exercise tolerance in dogs with neuromuscular disease are needed both for clinical and research use. The 6-minute walk test (6MWT) has been validated as a reliable test of exercise tolerance in dogs with pulmonary and cardiac disease, but not in dogs...

Author(s)
Cerda-Gonzalez, S.; Talarico, L.; Todhunter, R.
Publisher
Wiley-Blackwell, Boston, USA
Citation
Journal of Veterinary Internal Medicine, 2016, 30, 3, pp 808-812
Abstract

OBJECTIVE: To evaluate the potency of vecuronium and duration of vecuronium-induced neuromuscular blockade in dogs with centronuclear myopathy (CNM). ANIMALS: 6 Labrador Retrievers with autosomal-recessive CNM and 5 age- and weight-matched control dogs. PROCEDURES: Dogs were anesthetized on 2...

Author(s)
Martin-Flores, M.; Paré, M. D.; Tomak, E. A.; Corn, M. L.; Campoy, L.
Publisher
American Veterinary Medical Association, Schaumburg, USA
Citation
American Journal of Veterinary Research, 2015, 76, 4, pp 302-307
Abstract

A two-year old, male entire Border collie was presented with a one-year history of exercise-induced collapsing on the pelvic limbs. Physical examination revealed generalised muscle atrophy. Neurological examination supported a generalised neuromuscular disorder. Electromyography revealed...

Author(s)
Eminaga, S.; Cherubini, G. B.; Shelton, G. D.
Publisher
Wiley-Blackwell, Oxford, UK
Citation
Journal of Small Animal Practice, 2012, 53, 10, pp 608-612
Abstract

Background: Seven male Labrador Retriever puppies from 3 different litters, born to clinically normal dams and sires, were evaluated for progressive weakness and muscle atrophy. Muscle biopsies identified a congenital myopathy with pathologic features consistent with myotubular myopathy. Further...

Author(s)
Snead, E. C. R.; Taylor, S. M.; Kooij, M. van der; Cosford, K.; Beggs, A. H.; Shelton, G. D.
Publisher
Wiley-Blackwell, Boston, USA
Citation
Journal of Veterinary Internal Medicine, 2015, 29, 1, pp 254-260
Abstract

The frequency of 3 important genetic disorders (centronuclear myopathy, exercise-induced collapse and ichthyosis) was determined in Swiss populations of Labrador Retriever (n=190) and Golden Retriever (n=179) dogs. The results of the genetic tests were also compared with those collected from other...

Author(s)
Owczarek-Lipska, M.; Thomas, A.; André, C.; Hölzer, S.; Leeb, T.
Publisher
Verlag Hans Huber, Bern, Switzerland
Citation
SAT, Schweizer Archiv für Tierheilkunde, 2011, 153, 9, pp 418-420
Abstract

Centronuclear myopathy (CNM) is an autosomal recessive hereditary disease affecting Labrador Retriever dogs. The disease is characterized by muscle lesions, typically encompassing reduction in the number and atrophy of type II fibers, and is caused by a short interspersed repeat element insertion...

Author(s)
Gentilini, F.; Zambon, E.; Gandini, G.; Rosati, M.; Spadari, A.; Romagnoli, N.; Turba, M. E.; Gernone, F.
Publisher
American Association of Veterinary Laboratory Diagnosticians, Davis, USA
Citation
Journal of Veterinary Diagnostic Investigation, 2011, 23, 1, pp 124-126
Abstract

Neuromuscular diseases are characterized by a permanent or episodic peripheral motor neuron disorder, and result from lesions in one of elements of the motor unit: the motor neuron, the neuromuscular junction or the muscle fibres. The majority of hereditary neuromuscular diseases affect juveniles...

Author(s)
Thibaud, J. L.; Tiret, L.; Blot, S.
Publisher
NÉVA Europarc, Créteil, France
Citation
Le Nouveau Praticien Vétérinaire Canine - Féline, 2007, No.33, pp 42-50
Abstract

Centronuclear myopathy (CNM) is a muscular dystrohpy that affects only Labrador Retrievers. It has an autosomal recessive mode of inheritance and the gene mutation responsible for the disease is in the PTPLA gene that has homologues in mice and humans. The exact function of the gene product is...

Author(s)
Forsberg, M.
Publisher
Sveriges Veterinärförbund, Stockholm, Sweden
Citation
Svensk Veterinärtidning, 2009, 61, 4, pp 11-15

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