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Article

Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Feb 2010

Cowan Jason, Li Duanxiang, Gonzalez-Quintana Jorge, Morales Ana, Hershberger Ray E

Abstract excerpt

BACKGROUND: Mutations in the LMNA gene, encoding lamins A/C, represent a significant cause of dilated cardiomyopathy. We recently identified 18 protein-altering LMNA variants in a cohort of 324 unrelated patients with dilated cardiomyopathy. However, at least one family member with dilated cardiomyopathy in each of 6 pedigrees lacked the LMNA mutation (nonsegregation), whereas small sizes of 5 additional families...

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Identifiers

PMID: 20160190
DOI: 10.1161/CIRCGENETICS.109.905422
PMCID: PMC2908895

Genes

LMNA

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