Congenital titinopathy: comprehensive characterisation and pathogenic insights

C. Oates, Emily; J. Jones, Kristi; Donkervoort, S.; Charlton, A.; Brammah, S.; E. Smith, John; S. Ware, James; Yau, K.; Swanson, L.; Whiffin, N.; J. Peduto, Anthony; Bournazos, A.; B Waddell, Leigh; Farrar, M.; A. Sampaio, Hugo; Teoh, H.; Lamont, P.; Mowat, D.; B. Fitzsimons, Robin; J. Corbett, Alastair; M Ryan, Monique; O'grady, G.; Sandaradura, S.A.; Ghaoui, R.; Joshi, H.; L. Marshall, Jamie; A. Nolan, Melinda; Kaur, S.; Punetha, J.; Töpf, Ana; Harris, E.; Bakshi, Madhura; Genetti, C.; Marttila, M.; Werlauff, U.; Streichenberger, N.; Pestronk, A.; Mazanti, I.; R. Pinner, Jason; Vuillerot, C.; Grosmann, C.; Camacho, A.; Mohassel, P.; E. Leach, Meganne; Foley, A.; Bharucha-Goebel, D.; Collins, J.; Connolly, A.; R. Gilbreath, Heather; T. Iannaccone, Susan; Castro, D.; B. Cummings, Beryl; I. Webster, Richard; Lazaro, L.; Vissing, J.; Coppens, S.; Deconinck, N.; Luk, H.; H. Thomas, Neil; Foulds, N.; Illingworth, M.; Ellard, S.; Mclean, C.; Phadke, R.; Ravenscroft, G.; Witting, N.; Hackman, P.; Richard, I.; T. Cooper, Sandra; Kamsteeg, E.; P. Hoffman, Eric; Bushby, K.; Straub, V.; Udd, B.; Ferreiro, A.; N. North, Kathryn; F. Clarke, Nigel; Lek, M.; Beggs, A.; Bönnemann, C.; MacArthur, D.; Granzier, H.; R. Davis, Mark; Laing, N.

doi:10.1002/ana.25241

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Shared by NobleBlocks on Jun 1, 2018 • 12:00 AM UTC

Authors:

Oates EC

Jones KJ

Donkervoort S

Abstract

Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder.Methods Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN ...

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