The detail information of Muscular dystrophy, Ullrich type
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2015
Species-specific name: Muscular Dystrophy
Species-specific symbol: UCMD
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| COL6A1 | collagen, type VI, alpha 1 | Canis lupus familiaris | Chr31 : 38938729 - 38956907 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2020 |
Brands,J.,Steffen,F.,Spennes,J.,Leeb,T.,Bilzer,T.: :
COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. Muscle Nerve :, 2020. Pubmed reference: 33382107 . DOI: 10.1002/mus.27162 . |
| 2015 |
Steffen,F.,Bilzer,T.,Brands,J.,Golini,L.,Jagannathan,V.,Wiedmer,M.,Drögemüller,M.,Drögemüller,C.,Leeb,T.: :
A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. G3 (Bethesda) 5:2611-7, 2015. Pubmed reference: 26438297 . DOI: 10.1534/g3.115.021923 . |
| 2013 |
Marioni-Henry,K.,Haworth,P.,Scott,H.,Witte,P.,Guo,L.T.,Shelton,G.D.: :
Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever. J Vet Intern Med 28:243-9, 2013. Pubmed reference: 24147807 . DOI: 10.1111/jvim.12224 . |