Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.R793*
Back to variants list

MYH2

NM_017534.6:p.R793*

Associated Papers

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Labella B et al.

Journal of Neuromuscular Diseases, 2025

Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death.

Hata Y et al.

Journal of Neurology, 2023

Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.

Sonne A et al.

American Journal of Physiology. Cell Physiology, 2023

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.

Madigan NN et al.

Acta Neuropathologica Communications, 2021

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Telese R et al.

Molecular Genetics & Genomic Medicine, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."