Article
From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.
Proceedings of the National Academy of Sciences of the United States of America - 9 Jun 2026
Iyer Aishwarya S, Wright Nathan T, Cook Mary E, Takagi Yasuharu, Johnson Bruce A, Biancalana Valérie, Massier Marie, Spodenkiewicz Marta, Poirsier Céline, Vallecillo Brice, Constant Boyer François, Pineau Charlotte, Hensley Lindsey, Sellers James R, Varney Kristen M, Weber David J, Kontrogianni-Konstantopoulos Aikaterini
Abstract excerpt
Myotrem is an untreatable, early-onset, congenital myopathy characterized by hypotonia, muscle weakness, skeletal deformities, dysmorphia, respiratory insufficiency, and myogenic tremor (V. Shashi et al., Hum Mutat, 2019 and J. Stavusis et al., Ann. Neurol., 2019). It is associated with dominant variants in the pivotal M-domain of slow-skeletal Myosin Binding Protein-C (sMyBP-C) that modulates the dynamic binding...
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