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Article

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

The New England journal of medicine - 2 Dec 1999

Fatkin D, MacRae C, Sasaki T, Wolff M R, Porcu M, Frenneaux M, Atherton J, Vidaillet H J, Spudich S, De Girolami U, Seidman J G, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B

Abstract excerpt

BACKGROUND: Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C)...

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Share to Arrhythmias, Cardiac
Share to Cardiomyopathy, Dilated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 1

Share to Genes, Dominant

Share to Lamin Type A

Share to Lamins

Share to Muscular Dystrophy, Emery-Dreifuss

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Source

Identifiers

PMID: 10580070
DOI: 10.1056/NEJM199912023412302

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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