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
Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.
Song T et al.
Experimental & Molecular Medicine, 2023
Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.
Desai D et al.
Frontiers in Physiology, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Shashi V et al.
Human Mutation, 2019
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N et al.
Clinical Genetics, 2016
MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn.
Geist J et al.
Frontiers in Physiology, 2016
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
Li X et al.
Plos One, 2015
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
Markus B et al.
Human Mutation, 2012
Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus.
Wiedemar N et al.
Journal of Veterinary Internal Medicine, 0
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