A muscular dystrophy associated with bi‐allelic <scp> <i>LEMD2</i> </scp> variants: Expanding the genotype of nuclear envelopathies
Proteomics-guided exome re-analysis identifies bi-allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Authors
- H. Lochmüller
- Katja Neuhoff
- Ozge Aksel Kilicarslan (ORCID: https://orcid.org/0000-0001-5315-5290)
- Anne Schänzer (ORCID: https://orcid.org/0000-0002-2014-2028)
- Bonne Gisèle
- H Kölbel
- Nicolai Kohlschmidt (ORCID: https://orcid.org/0000-0003-1982-7756)
- Iakowos Karakesisoglou (ORCID: https://orcid.org/0000-0002-8549-0728)
- Johann Böhm
- Andrea Gangfuß
- Ulrike Schara-Schmidt
- Andreas Hentschel
- Kiran Polavarapu
- Sergi Beltran Agullo
- Marc Pauper
- Bernd Ringel
- Andreas Roos
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Durham University (GB)
- Justus-Liebig-Universität Gießen (DE)
- Children's Hospital of Eastern Ontario (CA)
- Ottawa Hospital (CA)
- Sorbonne Université (FR)
- Institut de génétique et de biologie moléculaire et cellulaire (FR)
- Düsseldorf University Hospital (DE)
- MIND Research Institute (US)
- Institut de Myologie (FR)
- Institute of Human Genetics (PL)
- Leibniz Institute for Analytical Sciences - ISAS (DE)
- Centro Nacional de Análisis Genómico (ES)
- Laboratoire National de Santé (LU)
- Centre de Recherche en Myologie
- Heinrich Heine University Düsseldorf (DE)
- University of Duisburg-Essen (DE)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Brain Pathology
- Published
- 2026-03-03
- DOI
- https://doi.org/10.1111/bpa.70082
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00