Literature DB >> 16674719

Inherited myopathy of great Danes.

A Lujan Feliu-Pascual1, A Lujan Feliu-Pascual1, G D Shelton, M P Targett, S N Long, E J Comerford, C McMillan, D Davies, C Rusbridge, D Mellor, K C Chang, T J Anderson.   

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, muscle wasting, and an exercise-induced tremor. Although most affected dogs have a severe form of the disease, occasional dogs may have a less pronounced form and survive into adulthood with an acceptable quality of life. Litters containing affected puppies are born to clinically unaffected parents, and an autosomal recessive pattern of inheritance is likely. All recorded cases have had fawn or brindle coat coloration. Elevated serum creatinine kinase concentrations and spontaneous electrical activity in skeletal muscles are frequently found. While originally reported (Targett and others 1994) as a central core myopathy in this breed, the histochemical characteristics of the distinct cytoarchitectural structures differ from those of the well-characterised central core myopathy in human beings. In fact, these structures differ from any known myopathy in human beings and likely represents a unique non-inflammatory myopathy affecting dogs. Until this myopathy is characterised further, the name inherited myopathy in great Danes is suggested.

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Year:  2006        PMID: 16674719     DOI: 10.1111/j.1748-5827.2006.00073.x

Source DB:  PubMed          Journal:  J Small Anim Pract        ISSN: 0022-4510            Impact factor:   1.522


  4 in total

1.  A possible new inherited myopathy in a young Labrador retriever.

Authors:  Kevin L Cosford; Susan M Taylor; Logan Thompson; G Diane Shelton
Journal:  Can Vet J       Date:  2008-04       Impact factor: 1.008

2.  X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Authors:  G Diane Shelton; Branden E Rider; Georgina Child; Sophia Tzannes; Ling T Guo; Behzad Moghadaszadeh; Emily C Troiano; Bianca Haase; Claire M Wade; Alan H Beggs
Journal:  Skelet Muscle       Date:  2015-01-27       Impact factor: 4.912

Review 3.  Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.

Authors:  Raquel Gómez-Oca; Belinda S Cowling; Jocelyn Laporte
Journal:  Int J Mol Sci       Date:  2021-10-21       Impact factor: 5.923

4.  Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Authors:  Johann Böhm; Nasim Vasli; Marie Maurer; Belinda S Cowling; Belinda Cowling; G Diane Shelton; Wolfram Kress; Anne Toussaint; Ivana Prokic; Ulrike Schara; Thomas James Anderson; Joachim Weis; Laurent Tiret; Jocelyn Laporte
Journal:  PLoS Genet       Date:  2013-06-06       Impact factor: 5.917

  4 in total

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