A muscular dystrophy associated with bi‐allelic <scp> <i>LEMD2</i> </scp> variants: Expanding the genotype of nuclear envelopathies

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Authors

Marc Pauper · Centro Nacional de Análisis Genómico

H Kölbel · University of Duisburg-Essen

Iakowos Karakesisoglou · Durham University

Anne Schänzer · Justus-Liebig-Universität Gießen

Johann Böhm · Centre National de la Recherche Scientifique

Rachel Thompson · Children's Hospital of Eastern Ontario

Nicolai Kohlschmidt

Abstract

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.

Topics & Keywords

Nuclear Structure and Function Mitochondrial Function and Pathology Amyotrophic Lateral Sclerosis Research

UN Sustainable Development Goals

Zero hunger

Publication Details

Published in: Brain Pathology

DOI: 10.1111/bpa.70082

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