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Article

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

Neuromuscular disorders : NMD - 1 Dec 2002

Vytopil Michal, Ricci Enzo, Dello Russo Antonio, Hanisch Frank, Neudecker Stephan, Zierz Stephan, Ricotti Roberta, Demay Laurence, Richard Pascale, Wehnert Manfred, Bonne Gisèle, Merlini Luciano, Toniolo Daniela

Abstract excerpt

Emery Dreifuss muscular dystrophy is a genetically heterogeneous disorder characterized by the clinical triad of early onset contractures, progressive muscular wasting and weakness with humeroperoneal distribution and cardiac conduction defects. Mutations in the Lamin A/C (LMNA) gene are responsi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12467752
DOI: 10.1016/s0960-8966(02)00178-5

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12467752-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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