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
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR et al.
Cell Genomics, 2023
36819666 (PubMed )
Supplement: mmc1.pdf
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
Disease mutations in striated muscle myosins.
Parker F et al.
Biophysical Reviews, 2020
32651905 (PubMed )
Supplement: 12551_2020_721_MOESM1_ESM.pdf
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
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
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