Associated Papers
Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.
Iyer A et al.
Gene, 2024
Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.
Song T et al.
Experimental & Molecular Medicine, 2023
Heterogeneous Distribution of Genetic Mutations in Myosin Binding Protein-C Paralogs.
Desai DA et al.
Frontiers in Genetics, 2022
Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.
Desai D et al.
Frontiers in Physiology, 2020
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
Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles.
Ackermann MA et al.
Scientific Reports, 2015
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
The sarcomeric M-region: a molecular command center for diverse cellular processes.
Hu LY et al.
Biomed Research International, 2015
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Ha K et al.
Human Molecular Genetics, 2013
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
Ackermann MA et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
Markus B et al.
Human Mutation, 2012
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G et al.
Journal of Medical Genetics, 2011
Myosin binding protein-C: a regulator of actomyosin interaction in striated muscle.
Ackermann MA et al.
Journal of Biomedicine & Biotechnology, 2011
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Gurnett CA et al.
Human Molecular Genetics, 2010
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N et al.
European Journal of Medical Genetics, 0
Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus.
Wiedemar N et al.
Journal of Veterinary Internal Medicine, 0