Ontology highlight
ABSTRACT:
SUBMITTER: Rees M
PROVIDER: S-EPMC7882473 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Rees Martin M Nikoopour Roksana R Fukuzawa Atsushi A Kho Ay Lin AL Fernandez-Garcia Miguel A MA Wraige Elizabeth E Bodi Istvan I Deshpande Charu C Özdemir Özkan Ö Daimagüler Hülya-Sevcan HS Pfuhl Mark M Holt Mark M Brandmeier Birgit B Grover Sarah S Fluss Joël J Longman Cheryl C Farrugia Maria Elena ME Matthews Emma E Hanna Michael M Muntoni Francesco F Sarkozy Anna A Phadke Rahul R Quinlivan Ros R Oates Emily C EC Schröder Rolf R Thiel Christian C Reimann Jens J Voermans Nicol N Erasmus Corrie C Kamsteeg Erik-Jan EJ Konersman Chaminda C Grosmann Carla C McKee Shane S Tirupathi Sandya S Moore Steven A SA Wilichowski Ekkehard E Hobbiebrunken Elke E Dekomien Gabriele G Richard Isabelle I Van den Bergh Peter P Domínguez-González Cristina C Cirak Sebahattin S Ferreiro Ana A Jungbluth Heinz H Gautel Mathias M
Acta neuropathologica 20210115 3
Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis of TTN-related myopathies and the pathogenicity ascertainment of TTN missense variants. We identifi ...[more]