Condition: Glycogen Storage Disease Type IIb
rs104894857 in
LAMP2 gene and
Glycogen Storage Disease Type IIb
PMID 15253947 2004 Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.
PMID 27678261 2016 Using whole-exome sequencing, we identified a nonsense mutation (c.520C>T, exon 4) of the LAMP2 gene in a family with Danon disease.
PMID 15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
PMID 19318653 2009 Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.
PMID 18555174 2008 Danon disease: an unusual presentation of autism.
PMID 16217705 2005 We describe two cases of Danon disease with different clinical presentation, in whom we identified the same exon skipping mutation c.928G>A in the LAMP-2 gene.
PMID 19373884 2009 Danon disease: further clinical and molecular heterogeneity.
PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
PMID 15907287 2005 Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.
PMID 21415759 2011 Natural history of Danon disease.
PMID 15889279 2005 Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
PMID 27179547 2016 Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.
PMID 15792868 2005 Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).
PMID 18312451 2008 Cardioembolic stroke in Danon disease.
PMID 16565504 2006 Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
PMID 18282207 2008 Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.
PMID 25458169 2015 Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes.
PMID 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.
PMID 20445193 2010 End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.
PMID 22695892 2012 Danon disease: focusing on heart.
PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
PMID 14598234 2003 Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.
PMID 18061453 2008 Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
PMID 18990578 2008 Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.
PMID 22074992 2012 Sudden death associated with danon disease in women.