Associated Papers
Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.
Illés A et al.
Children (basel, Switzerland), 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
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
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
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