Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, De Winter J, Ottenheijm C, Richard I, Malfatti E

Acta neuropathologica communications