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
Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome.
Bell KM et al.
Biophysical Journal, 2021
Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome.
Rao DS et al.
Molecular Biology of the Cell, 2019
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
Willis T et al.
Journal of Neurology, 2016
Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.
Pokrzywa M et al.
Plos One, 2015
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H et al.
European Journal of Human Genetics : Ejhg, 2014
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM et al.
Nature Genetics, 2006
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