{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:50:52Z","timestamp":1791035452660,"version":"4.1.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2009,2]]},"DOI":"10.1016\/j.nmd.2008.11.009","type":"journal-article","created":{"date-parts":[[2009,1,20]],"date-time":"2009-01-20T04:12:35Z","timestamp":1232424755000},"page":"118-123","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":59,"title":["Absence of \u03b2-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy"],"prefix":"10.1016","volume":"19","author":[{"given":"Nicole","family":"Monnier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Lunardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Marty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulette","family":"Mezin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Labarre-Vila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre Simon","family":"Jouk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2008.11.009_bib1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0960-8966(01)00252-8","article-title":"Mutations in the beta-tropomyosin (TPM2) gene \u2013 a rare cause of nemaline myopathy","volume":"12","author":"Donner","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2008.11.009_bib2","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.nmd.2007.02.015","article-title":"Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2","volume":"17","author":"Lehtokari","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2008.11.009_bib3","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1001\/archneur.64.9.1334","article-title":"Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)","volume":"64","author":"Tajsharghi","year":"2007","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nmd.2008.11.009_bib4","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":"Sung","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2008.11.009_bib5","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":"Tajsharghi","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.11.009_bib6","doi-asserted-by":"crossref","unstructured":"Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: nemaline myopathy, 11\u201313 June 1999, Naarden, The Netherlands. Neuromuscul Disord 2000;10:299\u2013306.","DOI":"10.1016\/S0960-8966(99)00129-7"},{"key":"10.1016\/j.nmd.2008.11.009_bib7","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1152\/physrev.1996.76.2.371","article-title":"Molecular diversity of myofibrillar proteins: gene regulation and functional significance","volume":"76","author":"Schiaffino","year":"1996","journal-title":"Physiol Rev"},{"key":"10.1016\/j.nmd.2008.11.009_bib8","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1023\/A:1010303732441","article-title":"Vertebrate tropomyosin: distribution, properties and function","volume":"22","author":"Perry","year":"2001","journal-title":"J Muscle Res Cell Motil"},{"key":"10.1016\/j.nmd.2008.11.009_bib9","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.tcb.2005.04.007","article-title":"Tropomyosin isoforms: divining rods for actin cytoskeleton function","volume":"15","author":"Gunning","year":"2005","journal-title":"Trends Cell Biol"},{"issue":"Suppl. 1","key":"10.1016\/j.nmd.2008.11.009_bib10","doi-asserted-by":"crossref","first-page":"i315","DOI":"10.1093\/bioinformatics\/btg1044","article-title":"Gene structure-based splice variant deconvolution using a microarray platform","volume":"19","author":"Wang","year":"2003","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2008.11.009_bib11","doi-asserted-by":"crossref","first-page":"7835","DOI":"10.1073\/pnas.82.23.7835","article-title":"A muscle-type tropomyosin in human fibroblasts: evidence for expression by an alternative RNA splicing mechanism","volume":"82","author":"MacLeod","year":"1985","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2008.11.009_bib12","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/506257","article-title":"Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit","volume":"79","author":"Hoffmann","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2008.11.009_bib13","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1086\/506256","article-title":"Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome","volume":"79","author":"Morgan","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2008.11.009_bib14","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ajhg.2007.11.006","article-title":"Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders","volume":"82","author":"Michalk","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2008.11.009_bib15","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.ajhg.2007.09.016","article-title":"Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome\/fetal akinesia patients","volume":"82","author":"Vogt","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2008.11.009_bib16","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1369\/jhc.4A6505.2005","article-title":"Tissue-specific tropomyosin isoform composition","volume":"53","author":"Schevzov","year":"2005","journal-title":"J Histochem Cytochem"},{"key":"10.1016\/j.nmd.2008.11.009_bib17","doi-asserted-by":"crossref","first-page":"97857","DOI":"10.1073\/pnas.90.21.9857","article-title":"Brain-specific tropomyosins TMBr-1 and TMBr-3 have distinct patterns of expression during development and un adult rat brain","volume":"90","author":"Stamm","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2008.11.009_bib18","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/ana.20157","article-title":"Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations","volume":"56","author":"Agrawal","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.11.009_bib19","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/ajmg.1320260114","article-title":"Progressive form of multiple pterygium syndrome in association with nemalin-myopathy: report of a female followed for twelve years","volume":"26","author":"Papadia","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2008.11.009_bib20","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1042\/bj2240215","article-title":"Myofibrillar-protein isoforms and sarcoplasmic-reticulum Ca2+ transport activity of single human muscle fibres","volume":"224","author":"Salviati","year":"1984","journal-title":"Biochem. J."},{"key":"10.1016\/j.nmd.2008.11.009_bib21","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/0014-5793(91)80315-T","article-title":"Biphasic expression of slow myosin light chains and slow tropomyosin isoforms during the development of the human quadriceps muscle","volume":"280","author":"Laurent-Winter","year":"1991","journal-title":"FEBS Lett"},{"key":"10.1016\/j.nmd.2008.11.009_bib22","doi-asserted-by":"crossref","first-page":"3937","DOI":"10.1016\/S0021-9258(18)34873-7","article-title":"Heterogeneity of contractile proteins. Differences in tropomyosin in fast, mixed, and slow skeletal muscles of the rabbit","volume":"257","author":"Bronson","year":"1982","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2008.11.009_bib23","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1006\/jmbi.1994.1677","article-title":"Tropomyosin length and two-stranded F-actin flexibility in the thin filament","volume":"243","author":"Censullo","year":"1994","journal-title":"J Mol Biol"},{"key":"10.1016\/j.nmd.2008.11.009_bib24","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ana.20305","article-title":"An alpha-tropomyosin mutation alters dimer preference in nemaline myopathy","volume":"57","author":"Corbett","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.11.009_bib25","doi-asserted-by":"crossref","first-page":"H1344","DOI":"10.1152\/ajpheart.00351.2002","article-title":"Tropomyosin 3 expression leads to hypercontractility and attenuates myofilament length-dependent Ca(2+) activation","volume":"283","author":"Pieples","year":"2002","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"10.1016\/j.nmd.2008.11.009_bib26","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1161\/01.RES.0000105088.06696.17","article-title":"Modulation of thin filament activation by breakdown or isoform switching of thin filament proteins: physiological and pathological implications","volume":"93","author":"Marston","year":"2003","journal-title":"Circ Res"},{"key":"10.1016\/j.nmd.2008.11.009_bib27","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/ana.21035","article-title":"Nemaline myopathy caused by absence of alpha-skeletal muscle actin","volume":"61","author":"Nowak","year":"2007","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.11.009_bib28","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1002\/bies.20269","article-title":"When contractile proteins go bad: the sarcomere and skeletal muscle disease","volume":"27","author":"Laing","year":"2005","journal-title":"Bioessays"},{"key":"10.1016\/j.nmd.2008.11.009_bib29","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/path.1648","article-title":"Congenital myopathies: diseases of the actin cytoskeleton","volume":"204","author":"Clarkson","year":"2004","journal-title":"J Pathol"},{"key":"10.1016\/j.nmd.2008.11.009_bib30","first-page":"349","article-title":"The role of movement in the development of joints and related structures: the head and neck in the chick embryo","volume":"22","author":"Murray","year":"1969","journal-title":"J Embryol Exp Morphol"},{"key":"10.1016\/j.nmd.2008.11.009_bib31","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/01202412-199707000-00002","article-title":"Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects","volume":"6","author":"Hall","year":"1997","journal-title":"J Pediatr Orthop B"},{"key":"10.1016\/j.nmd.2008.11.009_bib32","first-page":"3311","article-title":"Developmental analysis of tropomyosin gene expression in embryonic stem cells and mouse embryos","volume":"13","author":"Muthuchamy","year":"1993","journal-title":"Mol Cell Biol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896608007025?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896608007025?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:56:32Z","timestamp":1760774192000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896608007025"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["S0960896608007025"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2008.11.009","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2009,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Absence of \u03b2-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2008.11.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}