×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
28679633 2017
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.
24915601 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
29943882 2018
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
10908904 2000
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Inflammatory changes in infantile-onset LMNA-associated myopathy.
21632249 2011
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
20848652 2011
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
23183350 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation.18926329 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
18816602 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.
27884249 2016
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
11503164 2001
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
23427149 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
10814726 2000
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
11561226 2001
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
A novel mutation in a large French-Canadian family with LGMD1B.
18714801 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
20576434 2010
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
18035086 2007
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
23977161 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.
22019351 2012
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.
21483645 2011
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
18606848 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
20160190 2010
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.
16386954 2006
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
22177269 2012
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathy, Dilated
0.500
GeneticVariation
CLINVAR
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
12032588 2002