Associated Papers
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
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
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Sarcomeric myopathies associated with tremor: new insights and perspectives.
Stavusis J et al.
Journal of Muscle Research and Cell Motility, 2020
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Shashi V et al.
Human Mutation, 2019
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