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

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.

Muscle & nerve - 1 May 2005

Mercuri E, Brown S C, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy R J, Messina S, Sewry C, Burke M M, McKenna W, Bonne G, Muntoni F

Abstract excerpt

Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1B (EDMD and LGMD1B). With one exception, all the reported EDMD and LGMD1B mutations are confined to the first 10 exons of the gene. We report four separate cases, with mutations in the same codon of LMNA exon 11, characterized by remarkable...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrodiagnosis

Share to Fatal Outcome

Share to Lamin Type A

Share to Muscular Diseases

Share to Myocardium

Source

Identifiers

PMID: 15770669
DOI: 10.1002/mus.20293

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.PMID 15770669Read ↗

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.Semantic proximity Read ↗

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.Semantic proximity Read ↗

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.Semantic proximity Read ↗

The most severe form of LMNA-associated congenital muscular dystrophy.Semantic proximity Read ↗

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

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.Semantic proximity Read ↗

Mutations in the LMNA gene encoding lamin A/C.Semantic proximity Read ↗

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesSemantic proximity Read ↗

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.Semantic proximity Read ↗

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.Semantic proximity Read ↗

Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy.Semantic proximity Read ↗

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