Main menu

A CCG expansion in *ABCD3* causes oculopharyngodistal myopathy in individuals of European ancestry

  • Published on: October 10 2023
  • Source: medRxiv
Authors: Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca R Grosz, Melina Ellis, Liam G Fearnley, Rick Tankard, Justin Read, Ash Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez, Marion Masingue, Diane Giovannini, Martin Delatycki, Elsdon Storey, R J McKinlay Gardner, David Amor, Garth Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, OPDM study group, Genomics England, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A McLean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira Deveson, Paul J Lockhart, Phillipa J Lamont, Michael C Fahey, Enrico Bugiardini, Gianina Ravenscroft

Getting started

Buy a MinION starter pack Nanopore store Sequencing service providers Channel partners

Quick links

Intellectual property Cookie policy Corporate reporting Privacy policy Terms, conditions and policies Accessibility

About Oxford Nanopore

Contact us News Media resources & contacts Investor centre Careers BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
English flag