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

Roos, Andreas; van der Ven, Peter F. M.; Alrohaif, Hadil; Koelbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Assent, Marvin; Beck-Woedl, Stefanie; Barresi, Rita; Toepf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schroeder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Roebisch, Luisa; Hentschel, Andreas; Grueneboom, Anika; Fuerst, Dieter O.; Kuechler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmueller, Hanns

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

Author:

Roos, Andreas; van der Ven, Peter F. M.; Alrohaif, Hadil; Koelbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Assent, Marvin; Beck-Woedl, Stefanie; Barresi, Rita; Toepf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schroeder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Roebisch, Luisa; Hentschel, Andreas; Grueneboom, Anika; Fuerst, Dieter O.; Kuechler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmueller, Hanns

Tübinger Autor(en):

Beck-Wödl, Stefanie

Published in:

Brain (2023), Bd. 146, H. 10, S. 4200-4216

Verlagsangabe:

Oxford : Oxford Univ Press

Language:

English

Full text:

http://dx.doi.org/10.1093/brain/awad152

ISSN:

0006-8950