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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6801183/
https://ncbi.nlm.nih.gov/pubmed/31509352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50882
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