O09 : Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Roos A, van der Ven P, Alrohaif H, Kolbel H, Heil L, Della Marina A, Weis J, Topf A, Vorgerd M, Schara-Schmidt U, Gangfuss A, Evangelista T, Hentschel A, Grüneboom A, Fuerst D, Kuechler A, Tzschach A, Depienne C, Lochmuller H

Neuromuscular disorders : NMD