Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.G800delFs
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MYH2

NM_017534.6:p.G800delFs

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

Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.

Tsabari R et al.

Neuromuscular Disorders : Nmd, 2017

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

Willis T et al.

Journal of Neurology, 2016

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

Lossos A et al.

Brain : a Journal of Neurology, 2013

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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."