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
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G et al.
Jci Insight, 2023
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
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp S et al.
Molecular Genetics and Metabolism Reports, 2018
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
Willis T et al.
Journal of Neurology, 2016
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.
Cabrera-Serrano M et al.
Clinical Genetics, 2015
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.
D'Amico A et al.
Neuromuscular Disorders : Nmd, 2013
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