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Article

An inherited LMNA gene mutation in atypical Progeria syndrome.

American journal of medical genetics. Part A - 1 Nov 2012

Doubaj Yassamine, De Sandre-Giovannoli Annachiara, Vera Esteves-Vieira, Navarro Claire Laure, Elalaoui Siham Chafai, Tajir Mariam, Lévy Nicolas, Sefiani Abdelaziz

Abstract excerpt

Hutchinson-Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). Besides "typical...

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Source

Identifiers

PMID: 22991222
DOI: 10.1002/ajmg.a.35557

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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An inherited LMNA gene mutation in atypical Progeria syndrome.PMID 22991222Read ↗

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