Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.A236T
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MYH2

NM_017534.6:p.A236T

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

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

Madigan NN et al.

Acta Neuropathologica Communications, 2021

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Findlay AR et al.

Neuromuscular Disorders : Nmd, 2018

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Willis T et al.

Journal of Neurology, 2016

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Tajsharghi H et al.

European Journal of Human Genetics : Ejhg, 2014

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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."