The detail information of Muscular dystrophy, COL6A3-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: -

Considered a defect: yes

Year key mutation first reported: 2020

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
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 Bolduc,V.,Minor,K.M.,Hu,Y.,Kaur,R.,Friedenberg,S.G.,VanBuren,S.,Guo,L.T.,Glennon,J.C.,Marioni-Henry,K.,Mickelson,J.R.,Bönnemann,C.G.,Shelton,G.D.: :
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Neuromuscul Disord :, 2020.
Pubmed reference: 32439203 . DOI: 10.1016/j.nmd.2020.03.005 .