Associated Papers
Sex-dependent and muscle-specific progression of the MYBPC1 E248K Myotrem myopathy in response to aging.
Mariano JM et al.
Jci Insight, 2025
Pulsatile Myofilament Activity in Myotrem Myopathy Associated with Myogenic Tremor.
Mariano JM et al.
International Journal of Molecular Sciences, 2025
Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.
Bhandari V et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Leduc-Pessah H et al.
Journal of the Neurological Sciences, 2024
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Uneoka S et al.
Pediatric Neurology, 2023
Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.
Song T et al.
Experimental & Molecular Medicine, 2023
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 2022
A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation.
Shiraishi K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.
Geist Hauserman J et al.
Jci Insight, 2021
A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin.
Bunch TA et al.
The Journal of General Physiology, 2021
Sarcomeric myopathies associated with tremor: new insights and perspectives.
Stavusis J et al.
Journal of Muscle Research and Cell Motility, 2020
Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.
Desai D et al.
Frontiers in Physiology, 2020
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis J et al.
Annals of Neurology, 2019
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Gurnett CA et al.
Human Molecular Genetics, 2010