A 5’ UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathy
as a repeat-expansion myopathy gene further highlights the need for systematic interrogation of noncoding repeat loci in unresolved neuromuscular disease cohorts.
Authors
- Kornelia Neveling (ORCID: https://orcid.org/0009-0000-8055-5329)
- Willem De Ridder (ORCID: https://orcid.org/0000-0003-2754-5302)
- Matt C. Danzi (ORCID: https://orcid.org/0000-0003-1568-5965)
- Ashirwad Merve (ORCID: https://orcid.org/0000-0001-9715-1849)
- Tim De Pooter (ORCID: https://orcid.org/0000-0002-1097-5464)
- Riccardo Currò (ORCID: https://orcid.org/0000-0002-5622-0550)
- Stefen Brady (ORCID: https://orcid.org/0000-0001-6812-0920)
- Ilaria Quartesan (ORCID: https://orcid.org/0009-0008-6955-0904)
- Liedewei Van de Vondel (ORCID: https://orcid.org/0000-0003-2214-5908)
- Jonathan De Winter (ORCID: https://orcid.org/0000-0002-0166-6758)
- Lydia Sagath (ORCID: https://orcid.org/0000-0002-6754-3830)
- Pedro Machado (ORCID: https://orcid.org/0000-0002-8411-7972)
- Jonathan Baets (ORCID: https://orcid.org/0000-0001-8295-5385)
- Enrico Bugiardini (ORCID: https://orcid.org/0000-0002-9709-6699)
- Isaac Xu
- Alicia Alonso-Jimenez
- DS Robert Pitceathly
- OPDM Study Group
- Michael G Hanna
- Andrea Cortese
- Stephan Zuchner
- Stefano Facchini
- David Pellerin
- Hermione Ugolini
- Alexander Hoischen
- Mark Roberts
Institutions
- Radboud University Nijmegen (NL)
- University of Antwerp (BE)
- Queen Mary University of London (GB)
- Universidade de São Paulo (BR)
- University of Milan (IT)
- Salford Royal NHS Foundation Trust (GB)
- John Radcliffe Hospital (GB)
- Radboud University Medical Center (NL)
- National Institute for Health and Care Research (GB)
- Antwerp University Hospital (BE)
- Dr. John T. Macdonald Foundation (US)
- VIB-UAntwerp Center for Molecular Neurology (BE)
- William Harvey Research Institute (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- Clinics Hospital of Ribeirão Preto (BR)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University College London (GB)
Publication Details
- Journal
- medRxiv
- Published
- 2026-04-01
- DOI
- https://doi.org/10.64898/2026.03.27.26349107
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 13.67
Funders
- National Ataxia Foundation
- Charcot-Marie-Tooth Association
- Muscular Dystrophy UK
- LifeArc
- National Institute for Health and Care Research
- Guarantors of Brain
- University College London
- European Commission
- Rosetrees Trust
- Fondazione Cariplo
- Fonds Wetenschappelijk Onderzoek
- Universiteit Antwerpen
- Vlaamse regering
- Fondazione Regionale per la Ricerca Biomedica
- National Institutes of Health
- HORIZON EUROPE Framework Programme
- Medical Research Council