Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.

The Korean journal of internal medicine - 1 Mar 2009

Doh Yun Jeong, Kim Hee Kyoung, Jung Eui Dal, Choi Seung Hee, Kim Jung Guk, Kim Bo Wan, Lee In Kyu

Abstract excerpt

Hutchinson-Gilford progeria syndrome (HGPS) and Werner's syndrome are representative types of progeroid syndrome. LMNA (Lamin A/C) gene mutation with atypical Werner's syndrome have recently been reported. Atypical Werner's syndrome with the severe metabolic complications, the extent of the lipodystrophy is associated with A133L mutation in the LMNA gene and these patients present with phenotypically...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to DNA
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lamin Type A

Share to Lipodystrophy

Share to Sequence Analysis, DNA

Share to Werner Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 19270485
DOI: 10.3904/kjim.2009.24.1.68
PMCID: PMC2687649

Genes

LMNA

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.PMID 19270485Read ↗

p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.Semantic proximity Read ↗

A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.Semantic proximity Read ↗

Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance.Semantic proximity Read ↗

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).Semantic proximity Read ↗

Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report.Semantic proximity Read ↗

An inherited LMNA gene mutation in atypical Progeria syndrome.Semantic proximity Read ↗

Hutchinson-Gilford progeria syndrome.Semantic proximity Read ↗

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.Semantic proximity Read ↗

Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome.Semantic proximity Read ↗

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.Semantic proximity Read ↗

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.Semantic proximity Read ↗

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.