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Article

Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.

Muscle & nerve - 1 Jan 2010

Carboni Nicola, Porcu Maurizio, Mura Marco, Cocco Eleonora, Marrosu Giovanni, Maioli Maria A, Solla Elisabetta, Tranquilli Stefania, Orrù Pierpaolo, Marrosu Maria G

Abstract excerpt

The aim of this study is to report the evolution of a phenotype in members of a single family carrying the heterozygous exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation. All mutated family members underwent neurological and cardiological assessments for a period ranging from 10 to 20 years. At onset, 4 affected adult members presented a phenotype that required pacemaker implantation. Three subjects underwent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19768759
DOI: 10.1002/mus.21443

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.

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