Heterozygous Variants in MYBPC1 Are Associated with an Expanded Neuromuscular Phenotype Beyond Arthrogryposis
Vandana Shashi,Janelle Geist,Youngha Lee,Yongjin Yoo,Unbeom Shin,Kelly Schoch,Jennifer Sullivan,Nicholas Stong,Edward Smith,Joan Jasien,Peter Kranz,Yoonsung Lee,Yong Beom Shin,Nathan T. Wright,Murim Choi,Aikaterini Kontrogianni-Konstantopoulos,Maria T. Acosta,David R. Adams,Aaron Aday,Mercedes E. Alejandro,Patrick Allard,Euan A. Ashley,Mahshid S. Azamian,Carlos A. Bacino,Guney Bademci,Eva Baker,Ashok Balasubramanyam,Dustin Baldridge,Deborah Barbouth,Gabriel F. Batzli,Alan H. Beggs,Hugo J. Bellen,Jonathan A. Bernstein,Gerard T. Berry,Anna Bican,David P. Bick,Camille L. Birch,Stephanie Bivona,Carsten Bonnenmann,Devon Bonner,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Elly Brokamp,DonnaM Brown,Matthew Brush,Elizabeth A. Burke,Lindsay C. Burrage,Manish J. Butte,Olveen Carrasquillo,Ta Chen Peter Chang,Hsiao-Tuan Chao,Gary D. Clark,Terra R. Coakley,Laurel A. Cobban,Joy D. Cogan,F. Sessions Cole,Heather A. Colley,Cynthia M. Cooper,Heidi Cope,William J. Craigen,Precilla D'Souza,Surendra Dasari,Mariska Davids,Jean M. Davidson,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Naghmeh Dorrani,Daniel C. Dorset,Emilie D. Douine,David D. Draper,Annika M. Dries,Laura Duncan,David J. Eckstein,Lisa T. Emrick,Christine M. Eng,Gregory M. Enns,Cecilia Esteves,Tyra Estwick,Liliana Fernandez,Carlos Ferreira,Elizabeth L. Fieg,Paul G. Fisher,Brent L. Fogel,Irman Forghani,Noah D. Friedman,William A. Gahl,Rena A. Godfrey,Alica M. Goldman,David B. Goldstein,Jean-Philippe F. Gourdine,Alana Grajewski,Catherine A. Groden,Andrea L. Gropman,Melissa Haendel,Rizwan Hamid,Neil A. Hanchard,Frances High,Ingrid A. Holm,Jason Hom,Alden Huang,Yong Huang,Rosario Isasi,Fariha Jamal,Yong-hui Jiang,Jean M. Johnston,Angela L. Jones,Lefkothea Karaviti,Emily G. Kelley,David M. Koeller,Isaac S. Kohane,Jennefer N. Kohler,Deborah Krakow,Donna M. Krasnewich,Susan Korrick,Mary Koziura,Joel B. Krier,Jennifer E. Kyle,Seema R. Lalani,Byron Lam,Brendan C. Lanpher,Ian R. Lanza,C. Christopher Lau,Jozef Lazar,Kimberly LeBlanc,Brendan H. Lee,Hane Lee,Roy Levitt,Shawn E. Levy,Richard A. Lewis,Sharyn A. Lincoln,Pengfei Liu,Xue Zhong Liu,Sandra K. Loo,Joseph Loscalzo,Richard L. Maas,Ellen F. Macnamara,Calum A. MacRae,Valerie V. Maduro,Marta M. Majcherska,May Christine Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Ronit Marom,Martin G. Martin,Julian A. Martinez-Agosto,Shruti Marwaha,Thomas May,Jacob McCauley,Allyn McConkie-Rosell,Colleen E. McCormack,Alexa T. McCray,Jason D. Merker,Thomas O. Metz,Matthew Might,Eva Morava-Kozicz,Paolo M. Moretti,Marie Morimoto,John J. Mulvihill,David R. Murdock,Avi Nath,Stan F. Nelson,J. Scott Newberry,John H. Newman,Sarah K. Nicholas,Donna Novacic,Devin Oglesbee,James P. Orengo,Stephen Pak,J. Carl Pallais,Christina G. S. Palmer,Jeanette C. Papp,Neil H. Parker,Loren D. M. Pena,John A. Phillips,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Genecee Renteria,Chloe M. Reuter,Lynette Rives,Amy K. Robertson,Lance H. Rodan,Jill A. Rosenfeld,Robb K. Rowley, Ralph Sacco,Jacinda B. Sampson,Susan L. Samson,Mario Saporta, Judy Schaechter,Timothy Schedl,Daryl A. Scott,Lisa Shakachite,Prashant Sharma,Kathleen Shields,Jimann Shin,Rebecca Signer,Catherine H. Sillari,Edwin K. Silverman,Janet S. Sinsheimer,Kevin S. Smith,Lilianna Solnica-Krezel,Rebecca C. Spillmann,Joan M. Stoler,Jennifer A. Sullivan,David A. Sweetser,Cecelia P. Tamburro,Queenie K-G Tan,Mustafa Tekin,Fred Telischi,Willa Thorson,Cynthia J. Tifft,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Tiphanie P. Vogel,Daryl M. Waggott,Colleen E. Wahl,Nicole M. Walley,Chris A. Walsh,Melissa Walker,Jennifer Wambach,Jijun Wan,Lee-kai Wang,Michael F. Wangler,Patricia A. Ward,Katrina M. Waters,Bobbie-Jo M. Webb-Robertson,Daniel Wegner,Monte Westerfield,Matthew T. Wheeler,Anastasia L. Wise,Lynne A. Wolfe,Jeremy D. Woods,Elizabeth A. Worthey,Shinya Yamamoto,John Yang,Amanda J. Yoon,Guoyun Yu,Diane B. Zastrow,Chunli Zhao,Stephan Zuchner
Human Mutation（2019）
Cited 17|Views55
Key words
arthrogryposis,hypotonia,MYBPC1,myopathy,myosin binding protein-C,tremor
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