Ultrastructural pathology of the nuclear envelope in familial lamin A/C cardiomyopathy

Abstract

The LMNA gene encodes lamins A and C, two structural proteins of the nuclear lamina, a part of the nuclear envelope. LMNA gene mutations may cause familial cardiomyopathy. In this article, we describe an electron microscopic image of an endomyocardial biopsy specimen of a subject with familial cardiomyopathy with early onset cardiac fibrosis due to a deletion in LMNA, showing structural damage of the nuclear envelope.