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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2003

Open Access 01-12-2003 | Research article

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

Authors: Heather M MacLeod, Mary R Culley, Jill M Huber, Elizabeth M McNally

Published in: BMC Medical Genetics | Issue 1/2003

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Abstract

Background

Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and recessive Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy type 1B, autosomal recessive type 2 Charcot Marie Tooth, mandibuloacral dysplasia, familial partial lipodystrophy and Hutchinson-Gilford progeria.

Methods

We used mutation detection to evaluate the lamin A/C gene in a 45 year-old woman with familial dilated cardiomyopathy and conduction system disease whose family has been well characterized for this phenotype [1].

Results

DNA from the proband was analyzed, and a novel 2 base-pair deletion c.908_909delCT in LMNA was identified.

Conclusions

Mutations in the gene encoding lamin A/C can lead to significant cardiac conduction system disease that can be successfully treated with pacemakers and/or defibrillators. Genetic screening can help assess risk for arrhythmia and need for device implantation.
Appendix
Available only for authorised users
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Metadata
Title
Lamin A/C truncation in dilated cardiomyopathy with conduction disease
Authors
Heather M MacLeod
Mary R Culley
Jill M Huber
Elizabeth M McNally
Publication date
01-12-2003
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2003
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-4-4

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