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Research Paper | Synapse

March 6, 20260 citations

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A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies.

MPMarc PauperCentro Nacional de Análisis Genómico HKH KölbelUniversity of Duisburg-Essen IKIakowos KarakesisoglouDurham University

Key Points

The study aims to identify the role of bi-allelic LEMD2 variants in muscular dystrophy, contributing to the understanding of nuclear envelope disorders.
Conducted proteomics-guided exome re-analysis.
Identified bi-allelic variants in the LEMD2 gene.
Expanded the phenotypic spectrum associated with LEMD2 variants.
Confirmed the involvement of LEMD2 in muscular dystrophy.

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.

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Cite This Study

Pauper et al. (Tue,) studied this question.

synapsesocial.com/papers/69aa70f8531e4c4a9ff5b4ae https://doi.org/https://doi.org/10.1111/bpa.70082