The detail information of Muscular dystrophy
Basic Information

Abbreviated Name: MD

Disease Description: A congenital and often inherited form of generalized muscle dysfunction which causes signs such as poor growth, weakness, abnormal gait, dificulty eating and swallowing, and muscle atrophy.

Inherit Mode: -

Disease Symptom: Dogs with muscular dystrophy begin to show clinical signs at about 8 weeks of age. Initially they have muscular weakness, exercise intolerance and a stiff gait. Within a few weeks muscle atrophy spreads and becomes apparent. These initial signs are followed by generalized weakness, enlargement of the tongue, and difficulty swallowing. Affected puppy or dog has problems moving his tongue, drools excessively, retains food in his mouth, has difficulty breathing, muscle spasms of the neck that last 10 to 30 seconds, and increased exercise intolerance. The dog is able to chew but drops food during swallowing due to inappropriate tongue movement. Likewise, he is not able to drink normally but has to extend his head and neck to swallow water.

Disease Cause: -

Disease Diagnose: Muscle biopsy evaluation is critical to the diagnosis of muscle diseases in young puppies. Progressive muscle diseases affecting young puppies can be noninflammatory and include dystrophies, metabolic and mitochondrial disorders; or they can be inflammatory secondary to immune-mediated disease or infection with Toxoplasma gondii or Neospora caninum. An accurate diagnosis is critical for prognosis, for determination of appropriate therapy if available, and for elimination of genetic diseases from breeding populations.

Treat Method: Unfortunately at this time there is neither a cure nor a specific therapy for muscular dystrophy of any genetic origin. Anabolic supplements and growth factors may help slow the progression of the disease, but their efficacy is unproven, and they are expensive and can quickly become cost prohibitive for some owners. A stem cell breakthrough could lead to a treatment for muscular dystrophy, research has revealed. Scientists found transplanting stem cells into dogs with a version of the disease markedly improved their signs. However, the researchers need to find out why not all dogs respond positively.Life expectancy depends on the severity of clinical signs. Death may occur within the first few days in the case of severe complications, or dogs can survive for up to several years. Like people, dogs with muscular dystrophy often develop a heart muscle disease, and their heart disease is often what eventually leads to death.

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Muscular dystrophy - - -
Muscular dystrophy, Duchenne type X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy X-linked recessive DMD
Muscular dystrophy, Becker type - - -
Muscular dystrophy, Ullrich type Muscular Dystrophy Autosomal Recessive COL6A1
Muscular dystrophy, limb-girdle, type R6 (LGMDR6) - - SGCD
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB11 American Staffordshire Terrier Confident, Smart, Good-natured 18-19 inches (male), 17-18 inches (female) 55-70 pounds (male), 40-55 pounds (female) United States
CB31 Belgian Tervuren Smart, self-assured, very trainable; affectionate and possessive with loved ones 61-66 cm (male), 55.9-61 cm (female) 24.9-34 kg (male), 20.4-27.2 kg (female) Belgium
CB76 Cirneco dell'Etna Affectionate, Friendly, Independent 18-19.5 inches (male), 16.5-18 inches (female) 22-26 pounds (male), 17-22 pounds (female) Italy
CB117 Gordon Setter Bold, confident, and resolute afield; sweetly affectionate by the fireside 61-68.6 cm (male), 58.4-66 cm (female) 24.9-36.3 kg (male), 20.4-31.8 kg (female) United Kingdom (Scotland)
CB120 Great Pyrenees Calm, patient, smart; strong-willed yet affectionate 68.6-81.3 cm (male), 63.5-73.7 cm (female) 45.4 kg & up (male), 38.6 kg & up (female) France, Spain
CB133 Irish Water Spaniel Alert and inquisitive; hardworking and brave in the field, playful and affectionate at home 55.9-61 cm (male), 53.3-58.4 cm (female) 24.9-30.8 kg (male), 20.4-26.3 kg (female) Ireland
CB148 Lagotto Romagnolo(Romagna Water Dog) Easygoing, affectionate, and eager to please 43.2-48.3 cm (male), 40.6-45.7 cm (female) 12.9-15.9 kg (male), 10.9-14.1 kg (female) Italy
References
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2019 Nghiem,P.P.,Kornegay,J.N.: :
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2019 Wasala,N.B.,Hakim,C.H.,Chen,S.J.,Yang,N.N.,Duan,D.: :
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2018 Amoasii,L.,Hildyard,J.C.W.,Li,H.,Sanchez-Ortiz,E.,Mireault,A.,Caballero,D.,Harron,R.,Stathopoulou,T.R.,Massey,C.,Shelton,J.M.,Bassel-Duby,R.,Piercy,R.J.,Olson,E.N.: :
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2018 Eresen,A.,Alic,L.,Kornegay,J.,Ji,J.X.: :
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2018 Maruyama,R.,Aoki,Y.,Takeda,S.,Yokota,T.: :
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2018 MataLópez,S.,Hammond,J.J.,Rigsby,M.B.,Balog-Alvarez,C.J.,Kornegay,J.N.,Nghiem,P.P.: :
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2018 Nakamura,A.,Aoki,Y.,Tsoumpra,M.,Yokota,T.,Takeda,S.: :
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2016 Gentil,C.,LeGuiner,C.,Falcone,S.,Hogrel,J.Y.,Peccate,C.,Lorain,S.,Benkhelifa-Ziyyat,S.,Guigand,L.,Montus,M.,Servais,L.,Voit,T.,Piétri-Rouxel,F.: :
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2016 Kornegay,J.N.,Bogan,D.J.,Bogan,J.R.,Dow,J.L.,Wang,J.,Fan,Z.,Liu,N.,Warsing,L.C.,Grange,R.W.,Ahn,M.,Balog-Alvarez,C.J.,Cotten,S.W.,Willis,M.S.,Brinkmeyer-Langford,C.,Zhu,H.,Palandra,J.,Morris,C.A.,Styner,M.A.,Wagner,K.R.: :
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2016 MiskewNichols,B.,Aoki,Y.,Kuraoka,M.,Lee,J.J.,Takeda,S.,Yokota,T.: :
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2016 Nghiem,P.P.,Bello,L.,Balog-Alvarez,C.,MataLópez,S.,Bettis,A.,Barnett,H.,Hernandez,B.,Schatzberg,S.J.,Piercy,R.J.,Kornegay,J.N.: :
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2016 Sitzia,C.,Farini,A.,Jardim,L.,Razini,P.,Belicchi,M.,Cassinelli,L.,Villa,C.,Erratico,S.,Parolini,D.,Bella,P.,CarlosdaSilvaBizario,J.,Garcia,L.,DiasBaruffi,M.,Meregalli,M.,Torrente,Y.: :
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2016 Terrill,J.R.,Duong,M.N.,Turner,R.,LeGuiner,C.,Boyatzis,A.,Kettle,A.J.,Grounds,M.D.,Arthur,P.G.: :
Levels of inflammation and oxidative stress, and a role for taurine in dystropathology of the Golden Retriever Muscular Dystrophy dog model for Duchenne Muscular Dystrophy. Redox Biol 9:276-286, 2016.
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2015 Atencia-Fernandez,S.,Shiel,R.E.,Mooney,C.T.,Nolan,C.M.: :
Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes. Anim Genet 46:175-84, 2015.
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2015 Duan,D.: :
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2015 Duan,D.,Hakim,C.H.,Ambrosio,C.E.,Smith,B.F.,Sweeney,H.L.: :
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2015 Jenkins,C.A.,Forman,O.P.: :
Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog. Canine Genet Epidemiol 2:7, 2015.
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2015 Robriquet,F.,Lardenois,A.,Babarit,C.,Larcher,T.,Dubreil,L.,Leroux,I.,Zuber,C.,Ledevin,M.,Deschamps,J.Y.,Fromes,Y.,Cherel,Y.,Guevel,L.,Rouger,K.: :
Differential Gene Expression Profiling of Dystrophic Dog Muscle after MuStem Cell Transplantation. PLoS One 10:e0123336, 2015.
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2015 Vieira,N.M.,Elvers,I.,Alexander,M.S.,Moreira,Y.B.,Eran,A.,Gomes,J.P.,Marshall,J.L.,Karlsson,E.K.,Verjovski-Almeida,S.,Lindblad-Toh,K.,Kunkel,L.M.,Zatz,M.: :
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell 163:1204-13, 2015.
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2015 Steffen,F.,Bilzer,T.,Brands,J.,Golini,L.,Jagannathan,V.,Wiedmer,M.,Drögemüller,M.,Drögemüller,C.,Leeb,T.: :
A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. G3 (Bethesda) 5:2611-7, 2015.
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2014 DeVanna,J.C.,Kornegay,J.N.,Bogan,D.J.,Bogan,J.R.,Dow,J.L.,Hawkins,E.C.: :
Respiratory dysfunction in unsedated dogs with golden retriever muscular dystrophy. Neuromuscul Disord 24:63-73, 2014.
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2014 Martin,P.T.,Golden,B.,Okerblom,J.,Camboni,M.,Chandrasekharan,K.,Xu,R.,Varki,A.,Flanigan,K.M.,Kornegay,J.N.: :
A Comparative Study of N-glycolylneuraminic Acid (Neu5Gc) and Cytotoxic T Cell (CT) Carbohydrate Expression in Normal and Dystrophin-Deficient Dog and Human Skeletal Muscle. PLoS One 9:e88226, 2014.
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2014 Mead,A.F.,Petrov,M.,Malik,A.S.,Mitchell,M.A.,Childers,M.K.,Bogan,J.R.,Seidner,G.,Kornegay,J.N.,Stedman,H.H.: :
Diaphragm Remodeling and Compensatory Respiratory Mechanics in a Canine Model of Duchenne Muscular Dystrophy. J Appl Physiol (1985) :, 2014.
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2014 Peres,M.A.,daRocha,A.M.,Vannucchi,C.I.,Mendes,C.M.,Cavalcanti,P.V.,Nichi,M.,Ambrosio,C.E.,Miglino,M.A.,Visintin,J.A.,D'ÁvilaAssumpção,M.E.: :
Semen analysis of Golden Retriever healthy dogs and those affected by muscular dystrophy. Andrologia 46:277-82, 2014.
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2014 Wang,Z.,Halbert,C.L.,Lee,D.,Butts,T.,Tapscott,S.J.,Storb,R.,Miller,A.D.: :
Elimination of contaminating cap genes in AAV vector virions reduces immune responses and improves transgene expression in a canine gene therapy model. Gene Ther :, 2014.
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2013 Araujo,K.P.,Bonuccelli,G.,Duarte,C.N.,Gaiad,T.P.,Moreira,D.F.,Feder,D.,Belizario,J.E.,Miglino,M.A.,Lisanti,M.P.,Ambrosio,C.E.: :
Bortezomib (PS-341) treatment decreases inflammation and partially rescues the expression of the dystrophin-glycoprotein complex in GRMD dogs. PLoS One 8:e61367, 2013.
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2013 Brinkmeyer-Langford,C.,Kornegay,J.N.: :
Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model. Curr Genomics 14:330-42, 2013.
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2013 Broeckx,B.J.,Coopman,F.,Verhoeven,G.E.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,K.,Deforce,D.: :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013.
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2013 Cotten,S.W.,Kornegay,J.N.,Bogan,D.J.,Wadosky,K.M.,Patterson,C.,Willis,M.S.: :
Genetic myostatin decrease in the golden retriever muscular dystrophy model does not significantly affect the ubiquitin proteasome system despite enhancing the severity of disease. Am J Transl Res 6:43-53, 2013.
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2013 Fan,Z.,Wang,J.,Ahn,M.,Shiloh-Malawsky,Y.,Chahin,N.,Elmore,S.,Bagnell,C.R.,Wilber,K.,An,H.,Lin,W.,Zhu,H.,Styner,M.,Kornegay,J.N.: :
Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy. Neuromuscul Disord :, 2013.
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1999 Schatzberg,S.,Olby,N.,Steingold,S.,Keene,B.,Atkins,C.,Meurs,K.,Solomon,G.,Goedegebuure,S.A.,Wilton,S.,Sharp,N.: :
A polymerase chain reaction screening strategy for the promoter of the canine dystrophin gene American Journal of Veterinary Research 60:1040-1046, 1999.
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1998 Hanson,S.M.,Smith,M.O.,Walker,T.L.,Shelton,G.D.: :
Juvenile-onset distal myopathy in rottweiler dogs Journal of Veterinary Internal Medicine 12:103-108, 1998.
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1998 Howell,J.M.,Lochmüller,H.,O'Hara,A.,Fletcher,S.,Kakulas,B.A.,Massie,B.,Nalbantoglu,J.,Karpati,G.: :
High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. Hum Gene Ther 9:629-34, 1998.
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1998 Nonaka,I.: :
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1997 Howell,J.M.,Fletcher,S.,Kakulas,B.A.,Ohara,M.,Lochmuller,H.,Karpati,G.: :
Use of the dog model for duchenne muscular dystrophy in gene therapy trials Neuromuscular Disorders 7:325-328, 1997.
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1997 Howell,J.M.,Fletcher,S.,Kakulas,B.A.,Ohara,M.,Lochmuller,H.,Karpati,G.: :
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1996 Bartlett,R.J.,Winand,N.J.,Secore,S.L.,Singer,J.T.,Fletcher,S.,Wilton,S.,Bogan,D.J.,Metcalfbogan,J.R.,Bartlett,W.T.,Howell,J.M.,Cooper,B.J.,Kornegay,J.N.: :
Mutation segregation and rapid carrier detection of X-linked muscular dystrophy in dogs American Journal of Veterinary Research 57:650-654, 1996.
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1996 Bartlett,R.J.,Winand,N.J.,Secore,S.L.,Singer,J.T.,Fletcher,S.,Wilton,S.,Bogan,D.J.,Metcalfbogan,J.R.,Bartlett,W.T.,Howell,J.M.,Cooper,B.J.,Kornegay,J.N.: :
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1995 Koh,G.Y.,Soonpaa,M.H.,Klug,M.G.,Pride,H.P.,Cooper,B.J.,Zipes,D.P.,Field,L.J.: :
Stable fetal cardiomyocyte grafts in the hearts of dystrophic mice and dogs Journal of Clinical Investigation 96:2034-2042, 1995.
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1995 Vanham,L.M.L.,Desmidt,M.,Tshamala,M.,Hoorens,J.K.,Mattheeuws,D.R.G.: :
Canine X-linked muscular dystrophy in Belgian Groenendaeler shepherds Vlaams Diergeneeskundig Tijdschrift 64:102-106, 1995.
1995 Vanham,L.M.L.,Roels,S.L.M.F.,Hoorens,J.K.: :
Congenital dystrophy-like myopathy in a brittany spaniel puppy Progress in Veterinary Neurology 6:135-138, 1995.
1994 Gorospe,J.R.M.,Tharp,M.D.,Hinckley,J.,Kornegay,J.N.,Hoffman,E.P.: :
A Role for Mast Cells in the Progression of Duchenne Muscular Dystrophy - Correlations in Dystrophin-Deficient Humans, Dogs, and Mice Journal of the Neurological Sciences 122:44-56, 1994.
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1994 Kornegay,J.N.,Sharp,N.J.H.,Schueler,R.O.,Betts,C.W.: :
Tarsal joint contracture in dogs with golden retriever muscular dystrophy Laboratory Animal Science 44:331-333, 1994.
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1994 Pacioretty,L.M.,Cooper,B.J.,Gilmour,R.F.: :
Reduction of the transient outward potassium current in canine X-linked muscular dystrophy Circulation 90:1350-1356, 1994.
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1994 Prattis,S.M.,Horton,S.B.,Vancamp,S.D.,Kornegay,J.N.: :
Immunohistochemical Detection of Neural Cell Adhesion Molecule and Laminin in X-Linked Dystrophic Dogs and Mdx Mice Journal of Comparative Pathology 110:253-266, 1994.
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1994 Wilson,L.A.,Cooper,B.J.,Dux,L.,Dubowitz,V.,Sewry,C.A.: :
Expression of utrophin (dystrophin-related protein) during regeneration and maturation of skeletal muscle in canine X- linked muscular dystrophy Neuropathology and Applied Neurobiology 20:359-367, 1994.
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1994 Wilson,L.A.,Dux,L.,Cooper,B.J.,Dubowitz,V.,Sewry,C.A.: :
Experimental Regeneration in Canine Muscular Dystrophy .2. Expression of Myosin Heavy Chain Isoforms Neuromuscular Disorders 4:25-37, 1994.
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1994 Winand,N.,Pradham,D.,Cooper,B.: :
Molecular characterization of severe Duchenne-type muscular dystrophy in a family of Rottweiler dogs. Molecular Mechanism of Neuromuscular Disease. Muscular Dystrophy Association; Tucson, Ariz, USA :, 1994.
1993 Anderson,J.E.,Kakulas,B.A.,Jacobsen,P.F.,Johnsen,R.D.,Kornegay,J.N.,Grounds,M.D.: :
Comparison of Basic Fibroblast Growth Factor in X-Linked Dystrophin-Deficient Myopathies of Human, Dog and Mouse Growth Factors 9:107-121, 1993.
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1993 Prattis,S.M.,Gebhart,D.H.,Dickson,G.,Watt,D.J.,Kornegay,J.N.: :
Magnetic Affinity Cell Sorting (MACS) Separation and Flow Cytometric Characterization of Neural Cell Adhesion Molecule- Positive, Cultured Myogenic Cells from Normal and Dystrophic Dogs Experimental Cell Research 208:453-464, 1993.
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1993 Vanham,L.M.L.,Desmidt,M.,Tshamala,M.,Hoorens,J.K.,Mattheeuws,D.R.G.: :
Canine X-Linked Muscular Dystrophy in Belgian Groenendaeler Shepherds Journal of the American Animal Hospital Association 29:570-574, 1993.
1992 Sharp,N.J.H.,Kornegay,J.N.,Vancamp,S.D.,Herbstreith,M.H.,Secore,S.L.,Kettle,S.,Hung,W.Y.,Constantinou,C.D.,Dykstra,M.J.,Roses,A.D.,Bartlett,R.J.: :
An Error in Dystrophin Messenger RNA Processing in Golden Retriever Muscular Dystrophy, an Animal Homologue of Duchenne Muscular Dystrophy Genomics 13:115-121, 1992.
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1992 Valentine,B.A.,Winand,N.J.,Pradhan,D.,Moise,N.S.,Delahunta,A.,Kornegay,J.N.,Cooper,B.J.: :
Canine X-Linked Muscular Dystrophy as an Animal Model of Duchenne Muscular Dystrophy - A Review American Journal of Medical Genetics 42:352-356, 1992.
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1992 Cooper,B.J.,Kakulas,B.A.,Howell,J.M.,Roses,A.D.: :
The xmd Dog - Molecular and Phenotypic Characteristics Duchenne Muscular Dystrophy :109-111, 1992.
1992 Kakulas,B.A.,Bartlett,R.J.,Howell,J.M.,Roses,A.D.: :
Potential Strategies for Gene Therapy in Golden Retriever Muscular Dystrophy Duchenne Muscular Dystrophy :265-277, 1992.
1992 Sharp,N.J.H.,Kakulas,B.A.,Kornegay,J.N.,Howell,J.M.,Vancamp,S.D.,Herbstreith,M.H.,Secore,S.L.,Kettle,S.,Dykstra,M.J.,Constantinou,C.D.,Roses,A.D.,Bartlett,R.J.: :
Exon Skipping During Dystrophin Messenger RNA Processing in the Canine Homologue of Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy :113-126, 1992.
1992 Sharp,N.J.H.,Kornegay,J.N.,Vancamp,S.D.,Herbstreith,M.H.,Secore,S.L.,Kettle,S.,Hung,W.Y.,Constantinou,C.D.,Dykstra,M.J.,Roses,A.D.,Bartlett,R.J.: :
An Error in Dystrophin Messenger RNA Processing in Golden Retriever Muscular Dystrophy, an Animal Homologue of Duchenne Muscular Dystrophy Genomics 13:115-121, 1992.
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1992 Valentine,B.A.,Winand,N.J.,Pradhan,D.,Moise,N.S.,Delahunta,A.,Kornegay,J.N.,Cooper,B.J.: :
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1991 Mccully,K.,Giger,U.,Argov,Z.,Valentine,B.,Cooper,B.,Chance,B.,Bank,W.: :
Canine X-Linked Muscular Dystrophy Studied with Invivo Phosphorus Magnetic Resonance Spectroscopy Muscle & Nerve 14:1091-1098, 1991.
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1991 Mehta,J.R.,Braund,K.G.,Hegreberg,G.A.,Thukrall,V.: :
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1991 Valentine,B.A.,Chandler,S.K.,Cummings,J.F.,Cooper,B.J.: :
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1991 Moise,NS.,Valentine,BA.,Brown,CA.,Erb,HN.,Beck,KA.,Cooper,BJ.,Gilmour,RF.: :
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1991 Partridge,T.: :
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1990 Cooper,B.J.,Gallagher,E.A.,Smith,C.A.,Valentine,B.A.,Winand,N.J.: :
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1990 Valentine,B.A.,Cooper,B.J.,Cummings,J.F.,Delahunta,A.: :
Canine X-Linked Muscular Dystrophy - Morphologic Lesions Journal of the Neurological Sciences 97:1-23, 1990.
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1989 Valentine,B.A.,Cummings,J.F.,Cooper,B.J.: :
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1989 Valentine,B.A.,Kornegay,J.N.,Cooper,B.J.: :
Clinical Electromyographic Studies of Canine X-Linked Muscular Dystrophy American Journal of Veterinary Research 50:2145-2147, 1989.
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1988 Cooper,B.J.,Valentine,B.A.: :
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1988 Cooper,B.J.,Winand,N.J.,Stedman,H.,Valentine,B.A.,Hoffman,E.P.,Kunkel,L.M.,Scott,M.O.,Fischbeck,K.H.,Kornegay,J.N.,Avery,R.J.,Williams,J.R.,Schmickel,R.D.,Sylvester,J.E.: :
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs Nature 334:154-156, 1988.
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1988 Cooper,BJ.,Valentine,BA.,Wilson,S.,Patterson,DF.,Concannon,PW.: :
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1988 Valentine,B.A.,Cooper,B.J.,Delahunta,A.,O'Quinn,R.,Blue,J.T.: :
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1986 Valentine,B.A.,Cooper,B.J.,Cummings,J.F.,deLahunta,A.: :
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1985 Simpson,S.T.,Braund,K.G.: :
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1980 Funkquist,B.,Haraldsson,I.,Stahre,L.: :
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1951 Innes,J.R.: :
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