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Article

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

Brain pathology (Zurich, Switzerland) - 1 Jul 2026

Pauper Marc, Kölbel Heike, Karakesisoglou Iakowos, Schänzer Anne, Böhm Johann, Thompson Rachel, Kohlschmidt Nicolai, Ringel Bernd, Bonne Gisèle, Neuhoff Katja, Gangfuß Andrea, Kilicarslan Ozge Aksel, Agullo Sergi Beltran, Hentschel Andreas, Schara-Schmidt Ulrike, Lochmüller Hanns, Polavarapu Kiran, Roos Andreas

Abstract excerpt

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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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41776713
DOI: 10.1111/bpa.70082
PMCID: PMC13239970

Genes

LEMD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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