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Article

Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Feb 2007

Liang Wen-Chen, Yuo Chung-Yee, Liu Chun-Ya, Lee Chee-Siong, Goto Kanako, Hayashi Yukiko K, Jong Yuh-Jyh

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD family, including a mother and two daughters, and found a novel mutation in codon 520 in exon 9 of the lamin A/C (LMNA) gene, resulting in a substitution of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17493893
DOI: 10.1016/s0929-6646(09)60349-1

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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