{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:54:21Z","timestamp":1793382861839,"version":"4.5.0"},"reference-count":53,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2015,2,13]],"date-time":"2015-02-13T00:00:00Z","timestamp":1423785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0117158","type":"journal-article","created":{"date-parts":[[2015,2,13]],"date-time":"2015-02-13T19:04:57Z","timestamp":1423854297000},"page":"e0117158","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":23,"title":["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"],"prefix":"10.1371","volume":"10","author":[{"given":"Xuefu","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bomeng","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weitian","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Sui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yawen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongping","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianxin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,2,13]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M","article-title":"A revised and extended classification of the distal arthrogryposes","volume":"65","author":"M Bamshad","year":"1996","journal-title":"Am J Med Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/ajmg.1320110208","article-title":"The distal arthrogryposes: delineation of new entities\u2014review and nosologic discussion","volume":"11","author":"JG Hall","year":"1982","journal-title":"Am J Med Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1093\/hmg\/dds514","article-title":"The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis","volume":"22","author":"K Dieterich","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/ajmg.a.35809","article-title":"Spectrum of mutations that cause distal arthrogryposis types 1 and 2B","volume":"161A","author":"AE Beck","year":"2013","journal-title":"Am J Med Genet A"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1542\/peds.2005-1219","article-title":"Clinical characteristics and natural history of Freeman-Sheldon syndrome","volume":"117","author":"DA Stevenson","year":"2006","journal-title":"Pediatrics"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/ng1775","article-title":"Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome","volume":"38","author":"RM Toydemir","year":"2006","journal-title":"Nat Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1136\/jmg.23.3.231","article-title":"Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?","volume":"23","author":"J Vanek","year":"1986","journal-title":"J Med Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1212\/01.wnl.0000256339.40667.fb","article-title":"Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation","volume":"68","author":"H Tajsharghi","year":"2007","journal-title":"Neurology"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1086\/368294","article-title":"Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes","volume":"72","author":"SS Sung","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1086\/376418","article-title":"Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B","volume":"73","author":"SS Sung","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1007\/s00439-006-0183-4","article-title":"A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression","volume":"120","author":"M Jiang","year":"2006","journal-title":"Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1093\/hmg\/ddp587","article-title":"Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1","volume":"19","author":"CA Gurnett","year":"2010","journal-title":"Hum Mol Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ajhg.2012.11.014","article-title":"Mutations in ECEL1 cause distal arthrogryposis type 5D","volume":"92","author":"MJ McMillin","year":"2013","journal-title":"Am J Hum Genet"},{"key":"ref14","article-title":"Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes","author":"S Shaaban","year":"2013","journal-title":"Clin Genet"},{"key":"ref15","article-title":"Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D","author":"R Shaheen","year":"2013","journal-title":"Clin Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1126\/science.1193270","article-title":"Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels","volume":"330","author":"B Coste","year":"2010","journal-title":"Science"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"4667","DOI":"10.1073\/pnas.1221400110","article-title":"Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis","volume":"110","author":"B Coste","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref18","article-title":"Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5","author":"MJ McMillin","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"636403","DOI":"10.1155\/2011\/636403","article-title":"Myosin binding protein-C: a regulator of actomyosin interaction in striated muscle","volume":"2011","author":"MA Ackermann","year":"2011","journal-title":"J Biomed Biotechnol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"652065","DOI":"10.1155\/2010\/652065","article-title":"Myosin binding protein-C slow: an intricate subfamily of proteins","volume":"2010","author":"MA Ackermann","year":"2010","journal-title":"J Biomed Biotechnol"},{"key":"ref21","article-title":"Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1","author":"B Markus","year":"2012","journal-title":"Hum Mutat"},{"key":"ref22","first-page":"599","article-title":"Guidelines for the tetra-primer ARMS-PCR technique development","volume":"56","author":"RF Medrano","year":"2014","journal-title":"Mol Biotechnol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.gene.2013.06.082","article-title":"A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures","volume":"527","author":"X Li","year":"2013","journal-title":"Gene"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1111\/j.1651-2227.2012.02708.x","article-title":"Distal arthrogryposis: clinical and genetic findings","volume":"101","author":"E Kimber","year":"2012","journal-title":"Acta Paediatr"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1001\/jama.1970.03170080062018","article-title":"Cranio-carpo-tarsal dysplasia. Report of a case in father and son","volume":"211","author":"FC Fraser","year":"1970","journal-title":"JAMA"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"2797","DOI":"10.1002\/ajmg.a.31528","article-title":"A new distal arthrogryposis syndrome characterized by plantar flexion contractures","volume":"140","author":"DA Stevenson","year":"2006","journal-title":"Am J Med Genet A"},{"issue":"Suppl 4","key":"ref27","doi-asserted-by":"crossref","first-page":"40","DOI":"10.2106\/JBJS.I.00281","article-title":"Arthrogryposis: a review and update","volume":"91","author":"M Bamshad","year":"2009","journal-title":"J Bone Joint Surg Am"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s004390050708","article-title":"Germ line mosaicism","volume":"102","author":"J Zlotogora","year":"1998","journal-title":"Hum Genet"},{"key":"ref29","doi-asserted-by":"crossref","DOI":"10.2202\/1544-6115.1709","article-title":"Genetic linkage analysis in the presence of germline mosaicism","volume":"10","author":"O Weissbrod","year":"2011","journal-title":"Stat Appl Genet Mol Biol"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1042\/BJ20102007","article-title":"Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin","volume":"436","author":"Z Chen","year":"2011","journal-title":"Biochem J"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1152\/physrev.00017.2009","article-title":"Muscle giants: molecular scaffolds in sarcomerogenesis","volume":"89","author":"A Kontrogianni-Konstantopoulos","year":"2009","journal-title":"Physiol Rev"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1006\/jmbi.1998.2522","article-title":"Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C","volume":"286","author":"M Gruen","year":"1999","journal-title":"J Mol Biol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1161\/CIRCULATIONAHA.108.798983","article-title":"Cardiac myosin binding protein-C phosphorylation in a {beta}-myosin heavy chain background","volume":"119","author":"S Sadayappan","year":"2009","journal-title":"Circulation"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"9204","DOI":"10.1074\/jbc.M610899200","article-title":"Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2","volume":"282","author":"A Ababou","year":"2007","journal-title":"J Biol Chem"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10974-011-9268-3","article-title":"How do MYBPC3 mutations cause hypertrophic cardiomyopathy?","volume":"33","author":"S Marston","year":"2012","journal-title":"J Muscle Res Cell Motil"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s10974-012-9286-9","article-title":"Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle","volume":"33","author":"A Vydyanath","year":"2012","journal-title":"J Muscle Res Cell Motil"},{"key":"ref37","article-title":"MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis","author":"K Ha","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref38","article-title":"Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow","author":"MA Ackermann","year":"2013","journal-title":"FASEB J"},{"key":"ref39","first-page":"43","article-title":"[Freeman-Sheldon syndrome. Three new observations]","volume":"112","author":"RA Pfeiffer","year":"1972","journal-title":"Z Kinderheilkd"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/BF00291765","article-title":"A family with whistling-face-syndrome","volume":"55","author":"A Wettstein","year":"1980","journal-title":"Hum Genet"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1136\/jmg.21.5.364","article-title":"Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance","volume":"21","author":"JS Fitzsimmons","year":"1984","journal-title":"J Med Genet"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1136\/jmg.28.10.701","article-title":"A new form of autosomal dominant arthrogryposis","volume":"28","author":"MM Lai","year":"1991","journal-title":"J Med Genet"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1007\/BF00436029","article-title":"[Freeman and Sheldon\u2019s cranio-carpo-tarsal dystrophy; a casuistic report]","volume":"73","author":"FM Otto","year":"1953","journal-title":"Z Kinderheilkd"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/j.1651-2227.1968.tb06979.x","article-title":"Freeman-Sheldon\u2019s syndrome, cranio-carpo-tarsal dystrophy","volume":"57","author":"AE Rintala","year":"1968","journal-title":"Acta Paediatr Scand"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1001\/archpedi.1969.02100030429007","article-title":"Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations","volume":"117","author":"S Weinstein","year":"1969","journal-title":"Am J Dis Child"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1001\/archotol.1970.00770040253016","article-title":"Craniocarpotarsal dysplasia or whistling face syndrome","volume":"91","author":"J Cervenka","year":"1970","journal-title":"Arch Otolaryngol"},{"key":"ref47","first-page":"103","article-title":"Craneocarpotarsal with whistling facies syndrome Report of a case and review of the literature","volume":"5","author":"Molina Alberto Campos","year":"2009","journal-title":"Craneocarpotarsal with whistling facies syndrome Report of a case and review of the literature"},{"key":"ref48","first-page":"51","article-title":"FREEMAN-SHELDON SYNDROME: A CASE REPORT","author":"S SH","year":"2009","journal-title":"Iran J Child Neurology"},{"key":"ref49","first-page":"307","article-title":"Freeman-Sheldon syndrome: a case report","volume":"34","author":"G Aren","year":"2003","journal-title":"Quintessence Int"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1007\/s12098-009-0227-6","article-title":"Freeman-Sheldon syndrome\u2014prenatal and postnatal diagnosis","volume":"77","author":"SS Hegde","year":"2010","journal-title":"Indian J Pediatr"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K","article-title":"Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)","volume":"76","author":"PA Krakowiak","year":"1998","journal-title":"Am J Med Genet"},{"key":"ref52","first-page":"426","article-title":"A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter","volume":"60","author":"PA Krakowiak","year":"1997","journal-title":"Am J Hum Genet"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1750-1172-4-11","article-title":"Sheldon-Hall syndrome","volume":"4","author":"RM Toydemir","year":"2009","journal-title":"Orphanet J Rare Dis"}],"updated-by":[{"DOI":"10.1371\/journal.pone.0125310","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2015,5,7]],"date-time":"2015-05-07T00:00:00Z","timestamp":1430956800000}}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0117158","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,24]],"date-time":"2018-10-24T02:17:52Z","timestamp":1540347472000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0117158"}},"subtitle":[],"editor":[{"given":"Tao","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,2,13]]},"references-count":53,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,2,13]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0117158","relation":{"correction":[{"id-type":"doi","id":"10.1371\/journal.pone.0125310","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,13]]}}}