Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A.

doi:10.1016/j.ahj.2014.12.021

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

Community

Back to search

Article

Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A.

American heart journal - 1 Apr 2015

Andre Philippe, Schneebeli Stéphane, Vigouroux Corinne, Lascols Olivier, Schaaf Mathieu, Chevalier Philippe

Abstract excerpt

BACKGROUND: Laminopathies are associated with a broad spectrum of clinical manifestations, from lipodystrophy to cardiac diseases. The purpose of this study was to assess genotype-phenotype correlations in a lipodystrophic laminopathy caused by the Lamin A (LMNA) mutation T655fsX49. This mutation leads to synthesis of nonfarnesylated-mutated prelamin A that does not undergo the physiologic lamin A maturation...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to DNA
Share to DNA Mutational Analysis
Share to Electrocardiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lamin Type A

Share to Lipodystrophy, Familial Partial

Share to Nuclear Proteins

Share to Protein Precursors

Source

Open in PubMed

Identifiers

PMID: 25819867
DOI: 10.1016/j.ahj.2014.12.021

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.