P402 Nemaline myopathy type 6 caused by variants in the KBTBD13 gene: A cross-sectional study of 24 patients
Year: 2023
Type: conference-abstract
Source: Neuromuscular Disorders
Authors: E. Van Kleef, K. Bouman, J. Molenaar, B. Küsters, J. Groothuis, M. Olivé, E. Malfatti, E. Kamsteeg, B. Van Engelen, C. Ottenheijm, J. Doorduin, N. Voermans
Institutions: Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Kyoto University, Osaka Rosai Hospital, Hospital de Sant Pau, Centre for Biomedical Network Research on Rare Diseases, Université Paris-Est Créteil, Assistance Publique – Hôpitaux de Paris, Amsterdam University Medical Centers
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W4387310552