Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Annals of neurology - 1 Jun 2018
Oates Emily C, Jones Kristi J, Donkervoort Sandra, Charlton Amanda, Brammah Susan, Smith John E, Ware James S, Yau Kyle S, Swanson Lindsay C, Whiffin Nicola, Peduto Anthony J, Bournazos Adam, Waddell Leigh B, Farrar Michelle A, Sampaio Hugo A, Teoh Hooi Ling, Lamont Phillipa J, Mowat David, Fitzsimons Robin B, Corbett Alastair J, Ryan Monique M, O'Grady Gina L, Sandaradura Sarah A, Ghaoui Roula, Joshi Himanshu, Marshall Jamie L, Nolan Melinda A, Kaur Simranpreet, Punetha Jaya, Töpf Ana, Harris Elizabeth, Bakshi Madhura, Genetti Casie A, Marttila Minttu, Werlauff Ulla, Streichenberger Nathalie, Pestronk Alan, Mazanti Ingrid, Pinner Jason R, Vuillerot Carole, Grosmann Carla, Camacho Ana, Mohassel Payam, Leach Meganne E, Foley A Reghan, Bharucha-Goebel Diana, Collins James, Connolly Anne M, Gilbreath Heather R, Iannaccone Susan T, Castro Diana, Cummings Beryl B, Webster Richard I, Lazaro Leïla, Vissing John, Coppens Sandra, Deconinck Nicolas, Luk Ho-Ming, Thomas Neil H, Foulds Nicola C, Illingworth Marjorie A, Ellard Sian, McLean Catriona A, Phadke Rahul, Ravenscroft Gianina, Witting Nanna, Hackman Peter, Richard Isabelle, Cooper Sandra T, Kamsteeg Erik-Jan, Hoffman Eric P, Bushby Kate, Straub Volker, Udd Bjarne, Ferreiro Ana, North Kathryn N, Clarke Nigel F, Lek Monkol, Beggs Alan H, Bönnemann Carsten G, MacArthur Daniel G, Granzier Henk, Davis Mark R, Laing Nigel G
Abstract excerpt
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 mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features...
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