Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

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 type Bethlem. Clinical features are attributable to both muscle and connective tissue and include progressive muscle weakness and resp...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neuromuscul Disord
Egile Nagusiak: Bolduc, Véronique, Minor, Katie M, Hu, Ying, Kaur, Rupleen, Friedenberg, Steven G., Van Buren, Samantha, Guo, Ling T, Glennon, Joseph, Marioni-Henry, Katia, Mickelson, James R, Bönnemann, Carsten G, Shelton, G Diane
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7292757/
https://ncbi.nlm.nih.gov/pubmed/32439203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2020.03.005
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