Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis - Schoch, Kelly; Sullivan, Jennifer; Kranz, Peter; Kontrogianni‐Konstantopoulos, Aikaterini; Adams, David R.; Allard, Patrick; Balasubramanyam, Ashok; Barbouth, Deborah; Bellen, Hugo J.; Bernstein, Jonathan A.; Bick, David P.; Bonner, Devon; et al. (Human mutation, 2019)
Keywords: Actomyosin; Adult; Arthrogryposis; Arthrogryposis - genetics; Carrier Proteins - chemistry; Carrier Proteins - genetics; Child; Fathers; Female; Humans; hypotonia; Infant; Male; Models, Molecular; Muscle contraction; Musculoskeletal system; Mutation; MYBPC1; Myopathy; Myosin; myosin binding protein‐C; Neuromuscular Diseases - genetics; Pedigree; Phenotype; Phenotypes; Protein Conformation; Skeletal muscle; Tremor; Tremor (Muscular contraction); Whole Genome Sequencing - methods; arthrogryposis; tremor; MYBPC1; myosin binding protein-C; myopathy; hypotonia