Dominant collagen XII mutations cause a distal myopathy

OBJECTIVE: To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. METHODS: Patients with dominant COL12A1‐related myopathies were characterized by history and clinical examination, muscle imaging, and genetic...

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Detalles Bibliográficos
Autores principales: Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801183/
https://www.ncbi.nlm.nih.gov/pubmed/31509352
http://dx.doi.org/10.1002/acn3.50882

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