title: Dystrophin-deficient muscular dystrophy in a Weimaraner.
abstract: A 2-year-old, male Weimaraner with muscular dystrophy was presented with generalized muscle atrophy of the limbs; hypertrophy of the neck, infraspinatus, and lingual muscles; dysphagia; and regurgitation. Unilateral cryptorchidism, unilateral renal agenesis, and hiatal hernia were also detected. Spontaneous muscle activity was identified on myography. Serum creatine kinase was markedly elevated. Immunohistochemical staining for dystrophin was restricted to suspected revertant (characteristics of immaturity) fibers. Histologically, skeletal myofiber degeneration, endomysial fibrosis, and mineralization were present. Following euthanasia, necropsy revealed hypertrophy of the diaphragm and cardiac muscle fibrosis. This case of muscular dystrophy represents a slowly progressive form with organ agenesis.
authors.affiliation: Department of Clinical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, Oregon 97331, USA.
authors.forename: Wendy Irene
authors.initials: WI
authors.lastname: Baltzer
authors.forename: David V
authors.initials: DV
authors.lastname: Calise
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Levine
authors.forename: G D
authors.initials: GD
authors.lastname: Shelton
authors.forename: John F
authors.initials: JF
authors.lastname: Edwards
authors.forename: Joerg M
authors.initials: JM
authors.lastname: Steiner
mesh_terms: D000818:Animals; D003937:Diagnosis, Differential; D004283:Dog Diseases / Q000175:diagnosis* / Q000473:pathology; D004285:Dogs; D016189:Dystrophin / Q000172:deficiency*; D004576:Electromyography / Q000662:veterinary; D007150:Immunohistochemistry / Q000662:veterinary; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009137:Muscular Dystrophy, Animal / Q000175:diagnosis* / Q000473:pathology
chemical_list: D016189:Dystrophin