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...

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Dades bibliogràfiques
Publicat a:Neuromuscul Disord
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2020
Matèries:
Article
Accés en línia: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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