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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Neurol Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2021
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars