Ultrastructural pathology of the nuclear envelope in familial lamin A/C cardiomyopathy.
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.
Diercks
Gilles F
GF
Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. g.f.h.diercks@path.umcg.nl
van Tintelen
J Peter
JP
Tio
Rene A
RA
Kerstjens-Frederikse
Wilhelmina S
WS
Pinto
Yigal M
YM
Suurmeijer
Albert J
AJ
D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000473:pathology*; D004699:Endocardium / Q000378:metabolism / Q000473:pathology; D004719:Endomyocardial Fibrosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D046529:Microscopy, Electron, Transmission; D009685:Nuclear Envelope / Q000378:metabolism / Q000648:ultrastructure*
C494847:LMNA protein, human; D034904:Lamin Type A