Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

• Published in: Human mutation Vol. 40; no. 8; pp. 1115 - 1126
• Main Authors: 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, Boone, Braden E., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Butte, Manish J., Chang, Ta Chen Peter, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Cope, Heidi, Craigen, William J., Dasari, Surendra, Davids, Mariska, Dhar, Shweta U., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Godfrey, Rena A., Gourdine, Jean‐Philippe F., Gropman, Andrea L., Haendel, Melissa, Hanchard, Neil A., High, Frances, Hom, Jason, Huang, Alden, Isasi, Rosario, Kelley, Emily G., Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Hane, Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Maas, Richard L., Macnamara, Ellen F., Majcherska, Marta M., Malicdan, May Christine V., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, McCauley, Jacob, McConkie‐Rosell, Allyn, McCormack, Colleen E., Might, Matthew, Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Robertson, Amy K., Sacco, Ralph, Sampson, Jacinda B., Schaechter, Judy, Schedl, Timothy, Silverman, Edwin K., Stoler, Joan M., Sullivan, Jennifer A., Sweetser, David A., Tekin, Mustafa, Thorson, Willa, Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Walley, Nicole M., Walker, Melissa, Waters, Katrina M., Wegner, Daniel, Wheeler, Matthew T., Yamamoto, Shinya, Yang, John, Yoon, Amanda J.
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.08.2019
• Subjects: 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

Encoding the slow skeletal muscle isoform of myosin binding protein‐C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent families with skeletal muscle weakness, myogenic trem...