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

IF 5 2区医学 Q1 CLINICAL NEUROLOGY

Brain Pathology Pub Date : 2026-06-03 Epub Date: 2026-03-03 DOI:10.1111/bpa.70082

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

引用次数: 0

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.

Abstract Image

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与双等位基因LEMD2变异相关的肌肉萎缩症：扩大核包膜的基因型。

蛋白质组学指导的外显子组重新分析鉴定了核膜LEMD2基因的双等位基因变异，扩大了其表型谱。在BioRender中创建。贫民，M. (2026) https://BioRender.com/xamvo92。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Brain Pathology 医学-病理学

CiteScore

13.20

自引率

3.10%

发文量

审稿时长

6-12 weeks

期刊介绍： Brain Pathology is the journal of choice for biomedical scientists investigating diseases of the nervous system. The official journal of the International Society of Neuropathology, Brain Pathology is a peer-reviewed quarterly publication that includes original research, review articles and symposia focuses on the pathogenesis of neurological disease.