A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6
The c.1222C > A p.(Arg408Ser) variant in the <i>KBTBD13</i> gene is a likely pathogenic variant causing NEM6.
Authors
- Edoardo Malfatti (ORCID: https://orcid.org/0000-0001-7871-8600)
- Nicol Cornelia Voermans (ORCID: https://orcid.org/0000-0002-5837-7295)
- Benno Küsters (ORCID: https://orcid.org/0000-0003-0458-9441)
- J. Molenaar (ORCID: https://orcid.org/0000-0003-0453-4811)
- Jonne Doorduin (ORCID: https://orcid.org/0000-0002-4157-1649)
- Floor A.M. Duijkers (ORCID: https://orcid.org/0000-0001-8165-1662)
- Filip Eftimov (ORCID: https://orcid.org/0000-0002-0146-0776)
- Corien C. Verschuuren‐Bemelmans
- Esmee S.B. van Kleef
- Josine M. de Winter (ORCID: https://orcid.org/0000-0002-4278-8735)
- Baziel G.M. van Engelen (ORCID: https://orcid.org/0000-0001-9867-9047)
- Karlijn Bouman (ORCID: https://orcid.org/0000-0003-4964-3077)
- Coen A. C. Ottenheijm (ORCID: https://orcid.org/0000-0002-8808-4813)
- Erik-Jan Kamsteeg
- T. van der Laan
Institutions
- University Medical Center Groningen (NL)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- University of Groningen (NL)
- Université Paris-Est Créteil (FR)
- Radboud University Medical Center (NL)
- Assistance Publique – Hôpitaux de Paris (FR)
- Amsterdam Neuroscience (NL)
- Amsterdam University Medical Centers (NL)
- Institut Mondor de Recherche Biomédicale (FR)
- University of Amsterdam (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
Publication Details
- Journal
- Journal of Neuromuscular Diseases
- Published
- 2024-09-04
- DOI
- https://doi.org/10.3233/jnd-230196
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Radboud Universitair Medisch Centrum