|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.
|
29753918 |
2019 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe the clinical, pathological, and molecular features of a novel LAMP2 c.453delT mutation in a female patient with severe hypertrophic cardiomyopathy, Wolff Parkinson White (WPW) syndrome and rapid progression to heart failure, requiring heart transplant.
|
27497751 |
2017 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This led to the identification of lysosome-associated membrane protein 2 (LAMP2) mutations in 4 of the 64 (6%) probands with HC, including 3 novel nonsense mutations (p.Q240X, p.S250X, and p.G22X).
|
27460667 |
2016 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated the explanted heart and skeletal muscle biopsies in two girls, aged ten and thirteen years, who underwent cardiac transplantation because of hypertrophic cardiomyopathy secondary to LAMP2 mutations and a 41-year old female with late-onset familial LAMP2 cardiomyopathy with more typical clinical phenotype.
|
25900304 |
2015 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Sequencing analysis of 8 sarcomere genes (MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, and ACTC1) and 2 metabolic genes (PRKAG2 and LAMP2) was performed in 156 ES-HC patients with left ventricular (LV) ejection fraction (EF) <50%.
|
25037680 |
2014 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Advantages of a subcutaneous implantable cardioverter-defibrillator in LAMP2 hypertrophic cardiomyopathy.
|
23577876 |
2013 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy was found in 5/17 (29%) patients, with genetic testing in two patients demonstrating the lysosomal-associated membrane protein 2 mutation (Danon syndrome).
|
22242628 |
2012 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lysosome-associated membrane protein (LAMP2) cardiomyopathy is an X-linked and highly progressive myocardial storage disorder associated with diminished survival, which clinically resembles sarcomeric hypertrophic cardiomyopathy.
|
20920663 |
2010 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
|
19057086 |
2009 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy.
|
18004770 |
2008 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of nine unrelated patients with hypertrophic cardiomyopathy and vacuolar myopathy.
|
16565504 |
2006 |
|
Hypertrophic obstructive cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
LAMP-2 deficiency should be considered as a cause of recurrent hyperCKemia and hypertrophic cardiomyopathy.
|
15907287 |
2005 |