Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems

Myofibrillar myopathies (MFM) are a group of chronic muscle diseases pathophysiologically characterized by accumulation of protein aggregates and structural failure of muscle fibers. A subtype of MFM is caused by heterozygous mutations in the filamin C (FLNC) gene, exhibiting progressive muscle weak...

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Detalles Bibliográficos
Autores principales: Sellung, Dominik, Heil, Lorena, Daya, Nassam, Jacobsen, Frank, Mertens-Rill, Janine, Zhuge, Heidi, Döring, Kristina, Piran, Misagh, Milting, Hendrik, Unger, Andreas, Linke, Wolfgang A., Kley, Rudi, Preusse, Corinna, Roos, Andreas, Fürst, Dieter O., van der Ven, Peter F. M., Vorgerd, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10177260/
https://www.ncbi.nlm.nih.gov/pubmed/37174721
http://dx.doi.org/10.3390/cells12091321

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