Making sense of missense variants in TTN-related congenital myopathies

ISSN
0001-6322
Date Issued
2021
Author(s)
Rees, Martin
Nikoopour, Roksana
Fukuzawa, Atsushi
Kho, Ay Lin
Fernandez-Garcia, Miguel A.
Wraige, Elizabeth
Bodi, Istvan
Deshpande, Charu
Özdemir, Özkan
Daimagüler, Hülya-Sevcan
Pfuhl, Mark
Holt, Mark
Brandmeier, Birgit
Grover, Sarah
Fluss, Joël
Longman, Cheryl
Farrugia, Maria Elena
Matthews, Emma
Hanna, Michael
Muntoni, Francesco
Sarkozy, Anna
Phadke, Rahul
Quinlivan, Ros
Oates, Emily C.
Schröder, Rolf
Thiel, Christian
Reimann, Jens
Voermans, Nicol
Erasmus, Corrie
Kamsteeg, Erik-Jan
Konersman, Chaminda
Grosmann, Carla
McKee, Shane
Tirupathi, Sandya
Moore, Steven A.
Hobbiebrunken, Elke
Dekomien, Gabriele
Richard, Isabelle
Van den Bergh, Peter
Domínguez-González, Cristina
Cirak, Sebahattin
Ferreiro, Ana
Jungbluth, Heinz
Gautel, Mathias
DOI
10.1007/s00401-020-02257-0