Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
患有新型仅含宏转录本的肌联蛋白变体的长期存活先天性肌联蛋白病患者的临床和功能特征
期刊:Acta Neuropathologica Communications
影响因子:6.2
doi:10.1186/s40478-023-01539-4
Nastasia Cardone #, Melissa Moula #, Rianne J Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenhe