Varaico: Literature-Extracted Genetic Variants

Gene:DTNA
Variant:p.P121L
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DTNA

NM_001386795.1:p.P121L

Associated Papers

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Nascimento A et al.

Acta Neuropathologica, 2023

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.

Malakootian M et al.

Bmc Cardiovascular Disorders, 2022

35148685 (PubMed )
Supplement: 12872_2022_2485_MOESM1_ESM.docx

Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children.

Mehaney DA et al.

Cardiology in the Young, 2022

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.

Vähätalo JH et al.

Frontiers in Cardiovascular Medicine, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation.

Cao Q et al.

International Heart Journal, 2017

Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy.

Dong X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?

Arbustini E et al.

Journal of the American College of Cardiology, 2016

The Dystrophin Complex: Structure, Function, and Implications for Therapy.

Gao QQ et al.

Comprehensive Physiology, 2015

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.

Na I et al.

Plos One, 2013

Recent progress in the genetics of cardiomyopathy and its role in the clinical evaluation of patients with cardiomyopathy.

Ghosh N et al.

Current Opinion in Cardiology, 2011

Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.

Chang B et al.

Molecular Genetics and Metabolism, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

Left ventricular noncompaction.

Ichida F

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy.

Moric-Janiszewska E et al.

Clinical Cardiology, 2008

Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.

Xia S et al.

Internal Medicine (tokyo, Japan), 2008

Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology.

Zaragoza MV et al.

Current Opinion in Pediatrics, 2007

Isolated ventricular non-compaction: clinical study and genetic review.

Markiewicz-Loskot G et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2006

Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.

Finsterer J et al.

International Journal of Cardiology, 2006

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.

Xing Y et al.

Molecular Genetics and Metabolism, 2006

DAMAGE, a novel alpha-dystrobrevin-associated MAGE protein in dystrophin complexes.

Albrecht DE et al.

The Journal of Biological Chemistry, 2004

Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?

Blake DJ

Neuromuscular Disorders : Nmd, 2002

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

Ichida F et al.

Circulation, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."