Congenital Titinopathy: Comprehensive characterization and pathogenic insights

C. Oates, Emily; Jones, Kristi; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; E. Smith, John; S. Ware, James; S. Yau, Kyle; C. Swanson, Lindsay; Whiffin, Nicola; Peduto, Anthony; Bournazos, Adam; B. Waddell, Leigh; A. Farrar, Michelle; Sampaio, Hugo; Ling Teoh, Hooi; J. Lamont, Phillipa; Mowat, David; B. Fitzsimons, Robin; Corbett, Alastair; M. Ryan, Monique; O’Grady, Gina; A. Sandaradura, Sarah; Ghaoui, Roula; Joshi, Himanshu; L. Marshall, Jamie; Nolan, Melinda; Kaur, Simranpreet; Punetha, Jaya; Töpf, Ana; Harris, Elizabeth; Bakshi, Madhura; A. Genetti, Casie; Marttila, M.; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, M.; Reghan Foley, A.; Bharucha‐Goebel, Diana; J. Collins, James; M. Connolly, Anne; R. Gilbreath, Heather; T. Iannaccone, Susan; Castro, Diana; B. Cummings, Beryl; Webster, Richard; Lazaro, Leïla; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho‐Ming; H. Thomas, Neil; Foulds, Nicola; Illingworth, Marjorie; Ellard, Sian; McLean, Catriona; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; T. Cooper, Sandra; Kamsteeg, Erik‐Jan; P. Hoffman, Eric; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; N. North, Kathryn; F. Clarke, Nigel; Lek, Monkol; H. Beggs, Alan; Bönnemann, C.; G. MacArthur, Daniel; Granzier, Henk; R. Davis, Mark; G. Laing, Nigel

doi:10.1002/ana.25241

Public

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Published in Annals of Neurology • Apr 25, 2018

Authors:

Emily C. Oates

Kristi Jones

Sandra Donkervoort

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 T...

Subject

Characterization (materials science)

Medicine

Nanotechnology

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