Original paper
Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor
Abstract
Myosin binding protein-C slow (sMyBP-C) comprises a subfamily of cytoskeletal proteins encoded by MYBPC1 that is expressed in skeletal muscles where it contributes to myosin thick filament stabilization and actomyosin cross-bridge regulation. Recently, our group described the causal association of dominant missense pathogenic variants in MYBPC1 with an early-onset myopathy characterized by generalized muscle weakness, hypotonia, dysmorphia,...
Paper Details
Title
Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor
Published Date
Oct 8, 2021
Journal
Volume
6
Issue
19
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Notes
History