Sex-dependent and muscle-specific progression of the MYBPC1 E248K Myotrem myopathy in response to aging

Dominant missense mutations in MYBPC1, the gene encoding the essential sarcomeric slow Myosin Binding Protein-C (sMyBP-C), are associated with Myotrem, a new, early-onset congenital myopathy characterized by muscle weakness, hypotonia, skeletal deformities, and myogenic tremor. Importantly, the clin...

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Autors principals:	Jennifer M. Mariano, Humberto C. Joca, Jacob Kallenbach, Natasha Ranu, Julien Ochala, Christopher Ward, Aikaterini Kontrogianni-Konstantopoulos
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Clinical investigation 2025-08-01
Col·lecció:	JCI Insight
Matèries:	Cell biology Muscle biology
Accés en línia:	https://doi.org/10.1172/jci.insight.182471
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