title: Genetic aspects of Labrador Retriever myopathy.
abstract: Labrador Retriever myopathy (LRM) has become a relatively common muscular disease. The objective of our prospective study was to determine by segregation analyses a plausible mode of inheritance within a Labrador Retriever population. Therefore we performed neurological examinations, as well as electromyographic and histopathological evaluations of 58 closely related dogs. Seven dogs with an average age of 27.8 months had clinical signs consistent with LRM including exercise intolerance or fatigue. The diagnosis was based on neurological deficits and confirmed by histopathological results of muscle biopsy. We found in all cases obvious differences in fiber calibre size associated with texture disturbances. In addition, we found 41 clinically normal dogs with histological findings consistent with LRM. Three genetic models, the major gene, the mixed inheritance as well as the environmental model, were evaluated by segregation analyses. They were applied to an extended pedigree including 164 non-randomly ascertained related Labradors. According to phenotype the clinically examined dogs were divided into two different data sets. One data set distinguished between clinically normal and abnormal dogs, the second data set between histopathologically normal and abnormal dogs. We concluded that the clinical form of LRM is transmitted by a major gene and controlled by an autosomal recessive mode of inheritance. Furthermore, for expression of the subclinical form an additional gene or an environmental factor is responsible. Our findings suggest that LRM is similar to limb-girdle muscular dystrophy in man and therefore, may be used in the future as an animal model.
authors.affiliation: Institute of Animal Genetics, Nutrition and Housing, Department of Clinical Veterinary Medicine, University of Berne, Switzerland. tim_bley@hotmail.com
authors.forename: T
authors.initials: T
authors.lastname: Bley
authors.forename: Cl
authors.initials: C
authors.lastname: Gaillard
authors.forename: Th
authors.initials: T
authors.lastname: Bilzer
authors.forename: K G
authors.initials: KG
authors.lastname: Braund
authors.forename: D
authors.initials: D
authors.lastname: Faissler
authors.forename: F
authors.initials: F
authors.lastname: Steffen
authors.forename: S
authors.initials: S
authors.lastname: Cizinauskas
authors.forename: J
authors.initials: J
authors.lastname: Neumann
authors.forename: T
authors.initials: T
authors.lastname: Vögtli
authors.forename: R
authors.initials: R
authors.lastname: Equey
authors.forename: A
authors.initials: A
authors.lastname: Jaggy
mesh_terms: D000818:Animals; D001706:Biopsy / Q000662:veterinary; D004283:Dog Diseases / Q000235:genetics* / Q000473:pathology; D004285:Dogs; D004576:Electromyography / Q000662:veterinary; D005260:Female; D006651:Histocytochemistry / Q000662:veterinary; D008297:Male; D008957:Models, Genetic; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D010375:Pedigree; D011446:Prospective Studies