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Article

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication.

Neuromuscular disorders : NMD - 1 Aug 2010

Volpi L, Ricci G, Passino C, Di Pierri E, Alì G, Maccherini M, Benedetti S, Lattanzi G, Columbaro M, Ferrari M, Caramella D, Tanganelli P, Emdin M, Siciliano G

Abstract excerpt

Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by...

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Source

Identifiers

PMID: 20580235
DOI: 10.1016/j.nmd.2010.03.016

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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