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Article

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

American journal of medical genetics - 1 Sept 2001

Brown C A, Lanning R W, McKinney K Q, Salvino A R, Cherniske E, Crowe C A, Darras B T, Gominak S, Greenberg C R, Grosmann C, Heydemann P, Mendell J R, Pober B R, Sasaki T, Shapiro F, Simpson D A, Suchowersky O, Spence J E

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by slowly progressive muscle wasting and weakness; early contractures of the elbows, Achilles tendons, and spine; and cardiomyopathy associated with cardiac conduction defects. Clinically indistinguishable X-linked and autosomal forms of EDMD have been described. Mutations in the STA gene, encoding the nuclear envelope protein emerin, are responsible for...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11503164
DOI: 10.1002/ajmg.1463

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.PMID 11503164Read ↗

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.Semantic proximity Read ↗

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Semantic proximity Read ↗

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.Semantic proximity Read ↗

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.Semantic proximity Read ↗

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