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A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy

✍ Scribed by Janine Genschel; Bettina Bochow; Susanne Kuepferling; Ralf Ewert; Roland Hetzer; Herbert Lochs; Hartmut H-J. Schmidt


Book ID
101345130
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
16 KB
Volume
17
Category
Article
ISSN
1059-7794

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✦ Synopsis


Diagnosis method developed:

Mutation destroys a restriction site


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✍ Miia HolmstrΓΆm; Sari KivistΓΆ; Tiina HeliΓΆ; Raija Jurkko; Maija Kaartinen; Margar πŸ“‚ Article πŸ“… 2011 πŸ› BioMed Central 🌐 English βš– 677 KB

## Background The purpose of this study was to identify early features of lamin A/C gene mutation related dilated cardiomyopathy (DCM) with cardiovascular magnetic resonance (CMR). We characterise myocardial and functional findings in carriers of lamin A/C mutation to facilitate the recognition of