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Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
- Source :
- Bolduc, V, Minor, K M, Hu, Y, Kaur, R, Friedenberg, S G, Van Buren, S, Guo, L T, Glennon, J C, Marioni-Henry, K, Mickelson, J R, Bönnemann, C G & Shelton, G D 2020, ' Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs ', Neuromuscular Disorders . https://doi.org/10.1016/j.nmd.2020.03.005, Neuromuscul Disord, Neuromuscular disorders : NMD, vol 30, iss 5
- Publication Year :
- 2020
-
Abstract
- The collagen VI-related muscular dystrophies in people include a broad spectrum of diseases ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Clinical features are attributable to both muscle and connective tissue and include progressive muscle weakness and respiratory failure, hyperlaxity of distal joints, and progressive contracture of large joints. Here we describe two different COL6A3 pathogenic variants in Labrador Retriever dogs that result in autosomal recessive or autosomal dominant congenital myopathies with hyperlaxity of distal joints and joint contracture, similar to the condition in people.
- Subjects :
- 0301 basic medicine
Male
Pathology
Myopathy
Medical Physiology
Muscular Dystrophies
Canine
0302 clinical medicine
Collagen VI
2.1 Biological and endogenous factors
Joint Contracture
Muscular Dystrophy
Aetiology
Genetics (clinical)
Pediatric
Bethlem myopathy
Pedigree
Neurology
Congenital muscular dystrophy
Muscle
Female
medicine.symptom
musculoskeletal diseases
medicine.medical_specialty
Ullrich congenital muscular dystrophy
Intellectual and Developmental Disabilities (IDD)
Clinical Sciences
Collagen Type VI
Article
03 medical and health sciences
Rare Diseases
Dogs
medicine
Animals
Neurology & Neurosurgery
Whole Genome Sequencing
business.industry
Neurosciences
medicine.disease
Brain Disorders
030104 developmental biology
Musculoskeletal
Pediatrics, Perinatology and Child Health
Labrador Retriever
Neurology (clinical)
Contracture
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Bolduc, V, Minor, K M, Hu, Y, Kaur, R, Friedenberg, S G, Van Buren, S, Guo, L T, Glennon, J C, Marioni-Henry, K, Mickelson, J R, Bönnemann, C G & Shelton, G D 2020, ' Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs ', Neuromuscular Disorders . https://doi.org/10.1016/j.nmd.2020.03.005, Neuromuscul Disord, Neuromuscular disorders : NMD, vol 30, iss 5
- Accession number :
- edsair.doi.dedup.....7748580a3e84ca0d7e584f31528344ea