Article
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain : a journal of neurology - 3 Oct 2023
Roos Andreas, van der Ven Peter F M, Alrohaif Hadil, Kölbel Heike, Heil Lorena, Della Marina Adela, Weis Joachim, Aßent Marvin, Beck-Wödl Stefanie, Barresi Rita, Töpf Ana, O'Connor Kaela, Sickmann Albert, Kohlschmidt Nicolai, El Gizouli Magdeldin, Meyer Nancy, Daya Nassam, Grande Valentina, Bois Karin, Kaiser Frank J, Vorgerd Matthias, Schröder Christopher, Schara-Schmidt Ulrike, Gangfuss Andrea, Evangelista Teresinha, Röbisch Luisa, Hentschel Andreas, Grüneboom Anika, Fuerst Dieter O, Kuechler Alma, Tzschach Andreas, Depienne Christel, Lochmüller Hanns
Abstract excerpt
Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic variants in filamin-encoding genes have been linked to neurological disorders (FLNA) and muscle diseases characterized by myofibrillar perturbations (FLNC), but human diseases associated with FILIP1 variants have not yet been described. Here,...
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