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Article

LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.

Aging cell - 1 Aug 2024

Matter Alyssia, Kaufman Christina, Zürcher Nadia, Lenggenhager Daniela, Grehten Patrice, Bartholdi Deborah, Horka Laura, Häberle Johannes, Makris Georgios

Abstract excerpt

Nuclear envelopathies are rare genetic diseases that compromise the integrity of the nuclear envelope. Patients with a defect in LEM domain nuclear envelope protein 2 (LEMD2) leading to LEMD2-associated progeroid syndrome are exceedingly scarce in number, yet they exhibit shared clinical features including skeletal abnormalities and a prematurely-aged appearance. Our study broadens the understanding of...

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Identifiers

PMID: 38757373
DOI: 10.1111/acel.14189
PMCID: PMC11320348

Genes

LEMD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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