Congenital muscular dystrophy in a dog with a LAMA2 gene deletion
Copyright policy )Congenital muscular dystrophy in a dog with a LAMA2 gene deletion
Abstract A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.
- University of Minnesota United States
- University of California, San Diego United States
- Purdue University System United States
- Purdue University Press United States
- University of Minesota United States
Skeletal (mesh), Muscular Dystrophies (mesh), muscle, Veterinary medicine, Biopsy, laminin α2, laminin alpha 2, Muscular Dystrophies, Clinical Research (rcdc), Brain Disorders (rcdc), SF600-1100, Animals (mesh), Intellectual and Developmental Disabilities (IDD) (rcdc), Dog Diseases, Dog Diseases (mesh), whole genome sequencing, Skeletal, Phenotype (mesh), Phenotype, Gene Deletion (mesh), Muscle, Muscular Dystrophy (rcdc), Female, 3009 Veterinary Sciences (for-2020), myopathy, Laminin (mesh), Dogs (mesh), 3009 Veterinary sciences (for-2020), 0707 Veterinary Sciences (for), 610, Biotechnology (rcdc), Musculoskeletal (hrcs-hc), 30 Agricultural, Rare Diseases (rcdc), Veterinary and Food Sciences (for-2020), Dogs, 616, Animals, Muscle, Skeletal, Pediatric (rcdc), Congenital Structural Anomalies (rcdc), Genetics (rcdc), 2.1 Biological and endogenous factors (hrcs-rac), Human Genome (rcdc), Biopsy (mesh), Female (mesh), SMALL ANIMAL, Laminin, Congenital Muscular Dystrophy (rcdc), Veterinary Sciences (science-metrix), Gene Deletion
Skeletal (mesh), Muscular Dystrophies (mesh), muscle, Veterinary medicine, Biopsy, laminin α2, laminin alpha 2, Muscular Dystrophies, Clinical Research (rcdc), Brain Disorders (rcdc), SF600-1100, Animals (mesh), Intellectual and Developmental Disabilities (IDD) (rcdc), Dog Diseases, Dog Diseases (mesh), whole genome sequencing, Skeletal, Phenotype (mesh), Phenotype, Gene Deletion (mesh), Muscle, Muscular Dystrophy (rcdc), Female, 3009 Veterinary Sciences (for-2020), myopathy, Laminin (mesh), Dogs (mesh), 3009 Veterinary sciences (for-2020), 0707 Veterinary Sciences (for), 610, Biotechnology (rcdc), Musculoskeletal (hrcs-hc), 30 Agricultural, Rare Diseases (rcdc), Veterinary and Food Sciences (for-2020), Dogs, 616, Animals, Muscle, Skeletal, Pediatric (rcdc), Congenital Structural Anomalies (rcdc), Genetics (rcdc), 2.1 Biological and endogenous factors (hrcs-rac), Human Genome (rcdc), Biopsy (mesh), Female (mesh), SMALL ANIMAL, Laminin, Congenital Muscular Dystrophy (rcdc), Veterinary Sciences (science-metrix), Gene Deletion
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