Article
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Journal of neurology - 1 Dec 2023
Esteller Diana, Schiava Marianela, Verdú-Díaz José, Villar-Quiles Rocío-Nur, Dibowski Boris, Venturelli Nadia, Laforet Pascal, Alonso-Pérez Jorge, Olive Montse, Domínguez-González Cristina, Paradas Carmen, Vélez Beatriz, Kostera-Pruszczyk Anna, Kierdaszuk Biruta, Rodolico Carmelo, Claeys Kristl, Pál Endre, Malfatti Edoardo, Souvannanorath Sarah, Alonso-Jiménez Alicia, de Ridder Willem, De Smet Eline, Papadimas George, Papadopoulos Constantinos, Xirou Sofia, Luo Sushan, Muelas Nuria, Vilchez Juan J, Ramos-Fransi Alba, Monforte Mauro, Tasca Giorgio, Udd Bjarne, Palmio Johanna, Sri Srtuhi, Krause Sabine, Schoser Benedikt, Fernández-Torrón Roberto, López de Munain Adolfo, Pegoraro Elena, Farrugia Maria Elena, Vorgerd Mathias, Manousakis Georgious, Chanson Jean Baptiste, Nadaj-Pakleza Aleksandra, Cetin Hakan, Badrising Umesh, Warman-Chardon Jodi, Bevilacqua Jorge, Earle Nicholas, Campero Mario, Díaz Jorge, Ikenaga Chiseko, Lloyd Thomas E, Nishino Ichizo, Nishimori Yukako, Saito Yoshihiko, Oya Yasushi, Takahashi Yoshiaki, Nishikawa Atsuko, Sasaki Ryo, Marini-Bettolo Chiara, Guglieri Michela, Straub Volker, Stojkovic Tanya, Carlier Robert Y, Díaz-Manera Jordi
Abstract excerpt
BACKGROUND: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far. METHODS: We collected muscle MRIs of 80 of the 255 patients who...
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