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
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Wang R et al.
Briefings in Bioinformatics, 2023
MYH2-associated myopathy caused by a novel splice-site variant.
Cassini TA et al.
Neuromuscular Disorders : Nmd, 2023
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
Hedberg-Oldfors C et al.
Bmc Neurology, 2022
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