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Article

Mutations in the LMNA gene encoding lamin A/C.

Human mutation - 1 Dec 2000

Genschel J, Schmidt H H

Abstract excerpt

Very recently, mutations within the LMNA gene on chromosome 1q21.2 were shown to result in forms of muscular dystrophy, conduction-system disease, cardiomyopathy, and partial lipodystrophy. The LMNA gene encodes for the nucleophilic A-type lamins, lamin A and lamin C. These isoforms are generated by different splicing within exon 10 of LMNA. Thus lamin A/C is, besides emerin, the first known nucleophilic protein...

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Source

Identifiers

PMID: 11102973
DOI: 10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9

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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