In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised
definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our …

Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and
its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the …

Background: Mutations in LMNA are variably expressed and may cause cardiomyopathy,
atrioventricular block (AVB), or atrial arrhythmias (AAs) and ventricular arrhythmias (VA) …

LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the
nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are …

Bradyarrhythmia is a common heart rhythm abnormality comprising number of diseases and
is associated with decreased heart rate due to the failure of action potential generation and …

We report the first described case of a heterozygous p. R545H (c. 1634 G> A) missense
mutation in the LMNA gene with clinical features compatible with Dunnigan–type 2 familial …

Laminopathies are a group of inherited disorders caused by mutations in the lamin A/C
gene, and can affect diverse organs or tissues, or can be systemic, causing premature …

摘要目的: 分析携带基因突变和未携带基因突变的特发性扩张型心肌病(IDCM)
患者的临床发病及预后的差异性. 方法: 收集2011 年01 月-2014 年09 月于南京鼓楼医院就诊的 …

Introduction: Laminopathies are a diverse and complex group of rare genetic conditions due
to mutations in A-type lamins gene (LMNA). Striated muscle laminopathies (SML) are the …

This position statement was reviewed and revised by Prof Diane Fatkin, Dr Renee Johnson,
A/Prof Julie McGaughran, Dr Robert G Weintraub and A/Prof John J Atherton on behalf of …