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Article

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

American journal of medical genetics. Part A - 15 Jun 2008

Rankin Julia, Auer-Grumbach Michaela, Bagg Warwick, Colclough Kevin, Nguyen Thuy Duong, Fenton-May Jane, Hattersley Andrew, Hudson Judith, Jardine Philip, Josifova Dragana, Longman Cheryl, McWilliam Robert, Owen Katharine, Walker Mark, Wehnert Manfred, Ellard Sian

Abstract excerpt

Mutations in the LMNA gene result in diverse phenotypes including Emery Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy with conduction system disease, Dunnigan type familial partial lipodystrophy, mandibulo acral dysplasia, Hutchinson Gilford progeria syndrome, restrictive dermopathy and autosomal recessive Charcot Marie Tooth type 2. The c.1930C > T (R644C) missense mutation...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Diseases, Inborn

Share to Lamin Type A

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Source

Identifiers

PMID: 18478590
DOI: 10.1002/ajmg.a.32331

Genes

LMNA

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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Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.PMID 18478590Read ↗

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.Semantic proximity Read ↗

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Semantic proximity Read ↗

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.Semantic proximity Read ↗

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

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.Semantic proximity Read ↗

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.Semantic proximity Read ↗

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.Semantic proximity Read ↗

Clinical and genetic heterogeneity in laminopathies.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 ↗

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

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.Semantic proximity Read ↗

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.Semantic proximity Read ↗

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