Canine X-Linked Muscular Dystrophy in a Family of Grand Basset Griffon Vendéen Dogs

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

“…Klarenbeek et al examined multiple muscles from three ~2-m-old affected grand basset griffon vendeen dogs. The histological lesions were multifocal and included fiber size variation, clusters of small basophilic regenerative fibers, and occasional necrosis and mineralization (18). Presthus and Nordstoga reported fiber size difference, hyaline degeneration and macrophage infiltration in three 12-week-old affected Samoyed dogs (25).…”

“…Duchenne-like muscular dystrophy has been reported in at least 15 different dog breeds including beagle (10, 11), Belgian groenendaeler shepherd (12), Brittany spaniel (13), Cavalier King Charles spaniel (14), German short-haired pointer (15), golden retriever (11, 16, 17), grand basset griffon vendeen (18), Irish terrier (19), Japanese spitz (20), labrador retriever (21), miniature schnauzer (22), old English sheepdog (23), rat terrier (24), samoyed (25) and weimaraner (26). However, a majority of studies have been limited to descriptive clinical presentations.…”

Tetraparesis, Hemiparesis, and Ataxia

“…These are a heterogeneous group of hereditary degenerative myopathies that are well described in humans, dogs, and cats. [852][853][854] Dystrophin-associated muscular dystrophy of dogs have been reported in golden retrievers (Figure 7-23), [855][856][857] Irish terriers, 858 Samoyeds, 859 rottweilers, 860 the Belgian Groenendaeler shepherd, 861 miniature schnauzer, 862 Alaskan malamute, 863 wire-haired fox terrier, 801 German shorthaired pointer, 864 rat terrier, 865 Pembroke Welsh corgi, 801 Japanese spitz dog, 866 Brittany spaniel, 867 Labrador retriever, 868 grand basset griffon, 869 and Cavalier King Charles spaniel. Genetic mutations coding for the dystrophin protein or associated proteins lead to abnormal formation of the dystrophin-glycoprotein complex which lies in the sarcolemmal muscle membrane.…”

Dystrophin‐deficient muscular dystrophy in an Alaskan malamute

“…It is the most common form of muscular dystrophy seen in dogs, and is similar to that termed Duchenne's muscular dystrophy in human medicine (Shelton and Engvall 2002, Schatzberg and Shelton 2004). Dystrophin‐deficient muscular dystrophy has been reported in several breeds, summarised in Table 1 (Shelton and Engvall 2002, Schatzberg and Shelton 2004, Wieczorek and others 2006, Baltzer and others 2007, Klarenbeek and others 2007, Walmsley and others 2010). This short communication reports a confirmed case of dystrophin‐deficient muscular dystrophy in an Alaskan malamute, which has only previously been suspected in this breed (Cardinet and Holliday 1979).…”