Literature DB >> 12022412

Dystrophin-deficient muscular dystrophy in a Labrador retriever.

Robert L Bergman1, Karen D Inzana, William E Monroe, Linda G Shell, Ling A Liu, Eva Engvall, G Diane Shelton.   

Abstract

Sex-linked muscular dystrophy associated with dystrophin deficiency has been reported in several breeds of dogs and is best characterized in the golden retriever. In this case report, a young, male Labrador retriever with dystrophin-deficient muscular dystrophy is presented. Clinical signs included generalized weakness, lingual hypertrophy, and dysphagia. Electromyographic abnormalities including complex repetitive discharges were present. Serum creatine kinase concentration was dramatically elevated. Histopathological changes within a muscle biopsy specimen confirmed a dystrophic myopathy, and dystrophin deficiency was demonstrated by immunohistochemical staining. While X-linked muscular dystrophy has not previously been reported in the Labrador retriever, a hereditary myopathy with an autosomal recessive mode of inheritance has been characterized. A correct diagnosis and classification of these two disorders are critical for breeders and owners since both the mode of inheritance and the prognosis differ.

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Year:  2002        PMID: 12022412     DOI: 10.5326/0380255

Source DB:  PubMed          Journal:  J Am Anim Hosp Assoc        ISSN: 0587-2871            Impact factor:   1.023


  11 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

Review 2.  Dystrophin-deficient large animal models: translational research and exon skipping.

Authors:  Xinran Yu; Bo Bao; Yusuke Echigoya; Toshifumi Yokota
Journal:  Am J Transl Res       Date:  2015-08-15       Impact factor: 4.060

3.  Duchenne muscular dystrophy gene therapy: Lost in translation?

Authors:  Dongsheng Duan
Journal:  Res Rep Biol       Date:  2011-03

Review 4.  Duchenne muscular dystrophy gene therapy in the canine model.

Authors:  Dongsheng Duan
Journal:  Hum Gene Ther Clin Dev       Date:  2015-02-24       Impact factor: 5.032

5.  Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation.

Authors:  G Diane Shelton; Katie M Minor; Ling T Guo; Steven G Friedenberg; Jonah N Cullen; Jeffrey M Hord; David Venzke; Mary E Anderson; Megan Devereaux; Sally J Prouty; Caryl Handelman; Kevin P Campbell; James R Mickelson
Journal:  Neuromuscul Disord       Date:  2021-07-28       Impact factor: 4.296

6.  An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed.

Authors:  Bruce F Smith; Yongping Yue; Philip R Woods; Joe N Kornegay; Jin-Hong Shin; Regina R Williams; Dongsheng Duan
Journal:  Lab Invest       Date:  2010-08-16       Impact factor: 5.662

7.  Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene.

Authors:  Kosei Sakai; Tomoki Motegi; James Ken Chambers; Kazuyuki Uchida; Hidetaka Nishida; Shunsuke Shimamura; Hiroyuki Tani; Terumasa Shimada; Masaru Furuya
Journal:  J Vet Med Sci       Date:  2022-02-08       Impact factor: 1.105

8.  Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies.

Authors:  E C R Snead; S M Taylor; M van der Kooij; K Cosford; A H Beggs; G D Shelton
Journal:  J Vet Intern Med       Date:  2015-01-08       Impact factor: 3.333

9.  Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.

Authors:  Peter P Nghiem; Luca Bello; Cindy Balog-Alvarez; Sara Mata López; Amanda Bettis; Heather Barnett; Briana Hernandez; Scott J Schatzberg; Richard J Piercy; Joe N Kornegay
Journal:  Mamm Genome       Date:  2016-12-27       Impact factor: 2.957

10.  Bortezomib (PS-341) treatment decreases inflammation and partially rescues the expression of the dystrophin-glycoprotein complex in GRMD dogs.

Authors:  Karla P C Araujo; Gloria Bonuccelli; Caio N Duarte; Thais P Gaiad; Dayson F Moreira; David Feder; José E Belizario; Maria A Miglino; Michael P Lisanti; Carlos E Ambrosio
Journal:  PLoS One       Date:  2013-04-08       Impact factor: 3.240

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