FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data

OBJECTIVE: To determine whether a new indel mutation in the dimerization domain of filamin C (FLNc) causes a hereditary myopathy with protein aggregation in muscle fibers, we clinically and molecularly studied a German family with autosomal dominant myofibrillar myopathy (MFM). METHODS: We performed...

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Publicado en:Neurol Genet
Main Authors: Kley, Rudolf Andre, Leber, Yvonne, Schrank, Bertold, Zhuge, Heidi, Orfanos, Zacharias, Kostan, Julius, Onipe, Adekunle, Sellung, Dominik, Güttsches, Anne Katrin, Eggers, Britta, Jacobsen, Frank, Kress, Wolfram, Marcus, Katrin, Djinovic-Carugo, Kristina, van der Ven, Peter F.M., Fürst, Dieter O., Vorgerd, Matthias
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer 2021
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8237399/
https://ncbi.nlm.nih.gov/pubmed/34235269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000590
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