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

Marc Pauper; H Kölbel; Iakowos Karakesisoglou; Anne Schänzer; Johann Böhm; Bjarne Udd; Nicolai Kohlschmidt; Bernd Ringel; Bonne Gisèle; Katja Neuhoff; Andrea Gangfuß; Ozge Aksel Kilicarslan; Sergi Beltran Agullo; Andreas Hentschel; Ulrike Schara-Schmidt; H. Lochmüller; Kiran Polavarapu; Andreas Roos

doi:10.1111/bpa.70082

March 3, 2026

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

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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.

Implication

Proteomics-guided exome re-analysis reveals bi-allelic LEMD2 variants in muscular dystrophy, suggesting a broader genetic understanding of nuclear envelopathies.

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. (2026) studied this question.

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

View Full Paper

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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