16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy. - Metay, C.; Ghanem, R.; Toutain, A.; Bloch, A.; Blin, E.; Jobic, V.; Pham, T.; Lejeune, E.; Buratti, J.; Keren, B.; Ader, F.; Richard, P. (Neuromuscular Disorders, 2024)