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Article

LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

American journal of medical genetics. Part A - 1 Jul 2013

Kane Megan S, Lindsay Mark E, Judge Daniel P, Barrowman Jemima, Ap Rhys Colette, Simonson Lisa, Dietz Harry C, Michaelis Susan

Abstract excerpt

Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in LMNA, which encodes the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24. LMNA-linked progerias can be grouped into two classes: (1) the processing-deficient, early onset "typical" progerias...

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Source

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Identifiers

PMID: 23666920
DOI: 10.1002/ajmg.a.35971
PMCID: PMC3740161

Genes

LMNA
ZMPSTE24

Variants

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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