Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.R293*
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LAMP2

NM_002294.3:p.R293*

Associated Papers

Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.

Zhang Q et al.

The Canadian Journal of Cardiology, 2025

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

Narayan A et al.

Ophthalmic Genetics, 2024

High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients.

Chen X et al.

American Heart Journal, 2024

A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study.

Kavousi S et al.

Cell Journal, 2024

Successful Management of a Pregnant Patient with Danon Cardiomyopathy.

Inoue W et al.

Internal Medicine (tokyo, Japan), 2024

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

Oktay V et al.

Anatolian Journal of Cardiology, 2023

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.

Shalata A et al.

Genes, 2023

37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Missense_nonsense-44_Mutations

Danon Cardiomyopathy: Specific Imaging Signs.

Miliou A et al.

Jacc. Case Reports, 2022

A Frequent Observation of Wolff-Parkinson-White Syndrome and Fasciculoventricular Pathways in Patients With Danon Disease.

Chen X et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2022

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.

López-Sainz Á et al.

Revista Espanola De Cardiologia (english Ed.), 2019

A Nationwide Survey on Danon Disease in Japan.

Sugie K et al.

International Journal of Molecular Sciences, 2018

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A

Implantation of a Left Ventricular Assist Device for Danon Cardiomyopathy.

Kitahara H et al.

The Annals of Thoracic Surgery, 2017

Danon disease: focusing on heart.

Cheng Z et al.

Journal of Human Genetics, 2012

Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging.

Dara BS et al.

Cardiology in the Young, 2011

Genetic basis of end-stage hypertrophic cardiomyopathy.

Garcia-Pavia P et al.

European Journal of Heart Failure, 2011

End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.

Katzberg H et al.

Journal of Child Neurology, 2010

Genetic counseling and testing for hypertrophic cardiomyopathy: the pediatric perspective.

Demo EM et al.

Journal of Cardiovascular Translational Research, 2009

Novel human pathological mutations.

Unknown Author

Human Genetics, 2008

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

Bottillo I et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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