Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy

Keyphrases

• COL6A3 100%
• Congenital muscular Dystrophy 100%
• Frameshift Variant 100%
• American Staffordshire Terrier 100%
• Whole Genome Sequencing 66%
• Immunofluorescence Staining 66%
• Cryosection 33%
• Genetic Basis 33%
• Clinical Features 33%
• Infectious Diseases 33%
• Associated Proteins 33%
• Dystrophic 33%
• Dystrophy 33%
• Electrodiagnosis 33%
• Titer 33%
• Muscle Biopsy 33%
• Littermate 33%
• 6 Months of Age 33%
• Neurological Examination 33%
• Progressive Weakness 33%
• Joint Contracture 33%
• Creatine Kinase Activity 33%
• Serum Creatine Kinase 33%
• Older Americans 33%
• Sanger Sequencing 33%
• Cerebrospinal Fluid Analysis 33%
• Distal Limb 33%
• Multiple Breed 33%
• Joint Hyperlaxity 33%
• COL6A3 Gene 33%
• Limb Joint 33%
• Collagen 6 33%

Biochemistry, Genetics and Molecular Biology

• COL6A3 100%
• Terrier 100%
• Whole Genome Sequencing 66%
• Immunofluorescence 66%
• Genetics 33%
• Liquid 33%
• Titer 33%
• Breed 33%
• Creatine Kinase Blood Level 33%
• Sanger Sequencing 33%
• Electrodiagnosis 33%

Veterinary Science and Veterinary Medicine

• Dog 100%
• Congenital Muscular Dystrophy 100%
• Muscular Dystrophy 100%
• Cerebrospinal Fluid 20%
• Muscle Biopsy 20%
• Contracture 20%