|
Cardiomyopathy, Dilated
|
|
0.710 |
GeneticVariation
|
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
|
Cardiomyopathy, Dilated
|
|
0.710 |
CausalMutation
|
CLINVAR |
Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia.
|
21315846 |
2011 |
|
Cardiomyopathy, Dilated
|
|
0.710 |
CausalMutation
|
CLINVAR |
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
|
19882644 |
2010 |
|
Cardiomyopathy, Dilated
|
|
0.710 |
CausalMutation
|
CLINVAR |
Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.
|
19638735 |
2009 |
|
Cardiomyopathy, Dilated
|
|
0.710 |
CausalMutation
|
CLINVAR |
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
|
18035086 |
2007 |
|
Cardiomyopathy, Dilated
|
|
0.710 |
CausalMutation
|
CLINVAR |
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
|
11561226 |
2001 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evolution of a genetic diagnosis.
|
24237251 |
2014 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells.
|
23362510 |
2012 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
|
18035086 |
2007 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
|
11561226 |
2001 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
[Urinary incontinence in women is treated differently depending on the type].
|
2280636 |
1990 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.030 |
GeneticVariation
|
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.030 |
GeneticVariation
|
BEFREE |
We identified an autosomal dominant non‐sense mutation (R225X) in exon 4 of the lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated cardiomyopathy (DCM).
|
23362510 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our study confirmed that the p.R225X mutation leads to cardiac conduction disease with late or no development of DCM, underscoring the importance of this mutation in putative familial "lone conduction disease."
|
18035086 |
2007 |
|
Conduction disorder of the heart
|
|
0.010 |
GeneticVariation
|
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
|
Heart Block
|
|
0.010 |
GeneticVariation
|
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
|
Atrioventricular Block
|
|
0.010 |
GeneticVariation
|
BEFREE |
Lmna R225X mutant mice hold the potential for serving as in vivo models to explore the mechanism and therapeutic methods for AV block or myopathy associated with the aging process.
|
31668660 |
2020 |
|
Myopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Lmna R225X mutant mice hold the potential for serving as in vivo models to explore the mechanism and therapeutic methods for AV block or myopathy associated with the aging process.
|
31668660 |
2020 |
|
Familial dilated cardiomyopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified an autosomal dominant non‐sense mutation (R225X) in exon 4 of the lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated cardiomyopathy (DCM).
|
23362510 |
2012 |
|
Cardiac Arrhythmia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In family B a nonsense mutation (nucleotide C673T, amino acid R225X) was identified in 10 adult subjects; disease was also manifest as progressive conduction disease but with earlier onset (third and fourth decades), ventricular dysrhythmias, left ventricular enlargement, and systolic dysfunction.
|
11561226 |
2001 |