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

Gilles F Diercks; J Peter van Tintelen; Rene A Tio; Wilhelmina S Kerstjens-Frederikse; Yigal M Pinto; Albert J Suurmeijer

doi:10.1016/j.carpath.2009.03.001

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

Gilles F Diercks^*, J Peter van Tintelen, Rene A Tio, Wilhelmina S Kerstjens-Frederikse, Yigal M Pinto, Albert J Suurmeijer

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	e135-136
Journal	Cardiovascular Pathology
Volume	19
Issue number	4
DOIs	https://doi.org/10.1016/j.carpath.2009.03.001
Publication status	Published - 2010
Externally published	Yes

Keywords

Biopsy
Cardiomyopathy, Dilated/genetics
Endocardium/metabolism
Endomyocardial Fibrosis/genetics
Humans
Lamin Type A/genetics
Microscopy, Electron, Transmission
Nuclear Envelope/metabolism

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10.1016/j.carpath.2009.03.001

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@article{e01c47c6eaf144fd8bf4a80660c89e5c,

title = "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.",

keywords = "Biopsy, Cardiomyopathy, Dilated/genetics, Endocardium/metabolism, Endomyocardial Fibrosis/genetics, Humans, Lamin Type A/genetics, Microscopy, Electron, Transmission, Nuclear Envelope/metabolism",

author = "Diercks, {Gilles F} and {van Tintelen}, {J Peter} and Tio, {Rene A} and Kerstjens-Frederikse, {Wilhelmina S} and Pinto, {Yigal M} and Suurmeijer, {Albert J}",

year = "2010",

doi = "10.1016/j.carpath.2009.03.001",

language = "English",

volume = "19",

pages = "e135--136",

journal = "Cardiovascular Pathology",

issn = "1054-8807",

publisher = "Elsevier",

number = "4",

}

TY - JOUR

T1 - Ultrastructural pathology of the nuclear envelope in familial lamin A/C cardiomyopathy

AU - Diercks, Gilles F

AU - van Tintelen, J Peter

AU - Tio, Rene A

AU - Kerstjens-Frederikse, Wilhelmina S

AU - Pinto, Yigal M

AU - Suurmeijer, Albert J

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

KW - Biopsy

KW - Cardiomyopathy, Dilated/genetics

KW - Endocardium/metabolism

KW - Endomyocardial Fibrosis/genetics

KW - Humans

KW - Lamin Type A/genetics

KW - Microscopy, Electron, Transmission

KW - Nuclear Envelope/metabolism

U2 - 10.1016/j.carpath.2009.03.001

DO - 10.1016/j.carpath.2009.03.001

M3 - Article

C2 - 19375354

SN - 1054-8807

VL - 19

SP - e135-136

JO - Cardiovascular Pathology

JF - Cardiovascular Pathology

IS - 4

ER -

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

Abstract

Keywords

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