Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E1856K
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MYH7

NM_000257.4:p.E1856K

Associated Papers

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

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

[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene].

Hara K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2019

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.

Reis GF et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2015

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

Yüceyar N et al.

Neuromuscular Disorders : Nmd, 2015

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.

Finsterer J et al.

Neuromuscular Disorders : Nmd, 2014

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ et al.

Human Mutation, 2014

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction.

Finsterer J et al.

International Journal of Cardiology, 2014

Myosinopathies: pathology and mechanisms.

Tajsharghi H et al.

Acta Neuropathologica, 2013

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

Udd B

Neuromuscular Disorders : Nmd, 2009

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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."