Brain, Vol. 146, No. 10, 2023, P. 4200-4216
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A,…
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects