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Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype


Probst, S; Oechslin, E; Schuler, P; Greutmann, M; Boyé, P; Knirsch, W; Berger, F; Thierfelder, L; Jenni, R; Klaassen, S (2011). Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circulation, 4(4):367-374.

Abstract

Mutations in sarcomere genes account for a significant (29%) proportion of cases of isolated LVNC in this cohort. The distribution of disease genes confirms genetic heterogeneity and opens new perspectives in genetic testing in patients with LVNC and their relatives at high risk of inheriting the cardiomyopathy. The presence or absence of a sarcomere gene mutation in LVNC cannot be related to the clinical phenotype.

Abstract

Mutations in sarcomere genes account for a significant (29%) proportion of cases of isolated LVNC in this cohort. The distribution of disease genes confirms genetic heterogeneity and opens new perspectives in genetic testing in patients with LVNC and their relatives at high risk of inheriting the cardiomyopathy. The presence or absence of a sarcomere gene mutation in LVNC cannot be related to the clinical phenotype.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2011
Deposited On:28 Dec 2011 15:18
Last Modified:07 Dec 2017 10:27
Publisher:American Heart Association
ISSN:0009-7322
Publisher DOI:https://doi.org/10.1161/CIRCGENETICS.110.959270
PubMed ID:21551322

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