Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

OBJECTIVE: To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. METHODS: Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprotein N‐related myopathy and single‐center retrospective longit...

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Publicat a:Ann Clin Transl Neurol
Autors principals: Silwal, Arpana, Sarkozy, Anna, Scoto, Mariacristina, Ridout, Deborah, Schmidt, Anne, Laverty, Aidan, Henriques, Matilde, D'Argenzio, Luigi, Main, Marion, Mein, Rachael, Manzur, Adnan Y, Abel, Francois, Al‐Ghamdi, Fouad, Genetti, Casie A, Ardicli, Didem, Haliloglu, Goknur, Topaloglu, Haluk, Beggs, Alan H, Muntoni, Francesco
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7664282/
https://ncbi.nlm.nih.gov/pubmed/33037864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51218
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