{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T03:04:52Z","timestamp":1794366292854,"version":"4.9.0"},"publisher-location":"New York, NY","reference-count":65,"publisher":"Springer New York","isbn-type":[{"value":"9780387848464","type":"print"},{"value":"9780387848471","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008]]},"DOI":"10.1007\/978-0-387-84847-1_4","type":"book-chapter","created":{"date-parts":[[2009,9,16]],"date-time":"2009-09-16T00:08:18Z","timestamp":1253059698000},"page":"40-54","source":"Crossref","is-referenced-by-count":20,"title":["Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin"],"prefix":"10.1007","author":[{"given":"Nigel F.","family":"Clarke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"4_CR1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1023\/A:1010303732441","volume":"22","author":"S.V. Perry","year":"2001","unstructured":"Perry SV. Vertebrate tropomyosin: distribution, properties and function. J Muscle Res Cell Motil 2001; 22:5\u201349.","journal-title":"J Muscle Res Cell Motil"},{"key":"4_CR2","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1369\/jhc.4A6505.2005","volume":"53","author":"G. Schevzov","year":"2005","unstructured":"Schevzov G, Vrhovski B, Bryce NS et al. Tissue-specific tropomyosin isoform composition. J Histochem Cytochem 2005; 53:557\u2013570.","journal-title":"J Histochem Cytochem"},{"key":"4_CR3","first-page":"49","volume":"16","author":"A.M. Gordon","year":"2001","unstructured":"Gordon AM, Regnier M, Homsher E. Skeletal and cardiac muscle contractile activation: tropomyosin \u201crocks and rolls\u201d. News Physiol Sci 2001; 16:49\u201355.","journal-title":"News Physiol Sci"},{"key":"4_CR4","doi-asserted-by":"publisher","first-page":"8291","DOI":"10.1021\/bi000047x","volume":"39","author":"K. Pieples","year":"2000","unstructured":"Pieples K, Wieczorek DF. Tropomyosin 3 increases striated muscle isoform diversity. Biochemistry 2000; 39:8291\u20138297.","journal-title":"Biochemistry"},{"key":"4_CR5","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1042\/bj2240215","volume":"224","author":"G. Salviati","year":"1984","unstructured":"Salviati G, Betto R, Danieli BD et al. Myofibrillar-protein isoforms and sarcoplasmic-reticulum Ca2+-transport activity of single human muscle fibers. Biochem J 1984; 224:215\u2013225.","journal-title":"Biochem J"},{"key":"4_CR6","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1007\/BF00581181","volume":"362","author":"J. Leger","year":"1976","unstructured":"Leger J, Bouveret P, Schwartz K et al. A comparative study of skeletal and cardiac tropomyosins: Subunits, thiol group content and biological activities. Pflugers Arch 1976; 362:271\u2013277.","journal-title":"Pflugers Arch"},{"key":"4_CR7","doi-asserted-by":"crossref","first-page":"3937","DOI":"10.1016\/S0021-9258(18)34873-7","volume":"257","author":"D.D. Bronson","year":"1982","unstructured":"Bronson DD, Schachat FH. Heterogeneity of contractile proteins. Differences in tropomyosin in fast, mixed and slow skeletal muscles of the rabbit. J Biol Chem 1982; 257:3937\u20133944.","journal-title":"J Biol Chem"},{"key":"4_CR8","doi-asserted-by":"publisher","first-page":"2359","DOI":"10.1073\/pnas.82.8.2359","volume":"82","author":"H.R. Brown","year":"1985","unstructured":"Brown HR, Schachat FH. Renaturation of skeletal muscle tropomyosin: Implications for in vivo assembly. Proc Natl Acad Sci USA 1985; 82:2359\u20132363.","journal-title":"Proc Natl Acad Sci USA"},{"key":"4_CR9","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1113\/jphysiol.2007.129759","volume":"581","author":"J. Ochala","year":"2007","unstructured":"Ochala J, Li M, Tajsharghi H et al. Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibers. J Physiol 2007; 581:1283\u20131292.","journal-title":"J Physiol"},{"key":"4_CR10","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1152\/physrev.2000.80.2.853","volume":"80","author":"A.M. Gordon","year":"2000","unstructured":"Gordon AM, Homsher E, Regnier M. Regulation of contraction in striated muscle. Physiol Rev 2000; 80:853\u2013924.","journal-title":"Physiol Rev"},{"key":"4_CR11","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1016\/0092-8674(94)90054-X","volume":"77","author":"L. Thierfelder","year":"1994","unstructured":"Thierfelder L, Watkins H, MacRae C et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell 1994; 77:701\u2013712.","journal-title":"Cell"},{"key":"4_CR12","doi-asserted-by":"publisher","first-page":"2033","DOI":"10.1016\/j.jacc.2004.08.027","volume":"44","author":"J. Mogensen","year":"2004","unstructured":"Mogensen J, Murphy RT, Shaw T et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004; 44:2033\u20132040.","journal-title":"J Am Coll Cardiol"},{"key":"4_CR13","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/ng0897-379","volume":"16","author":"A. Kimura","year":"1997","unstructured":"Kimura A, Harada H, Park JE et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997; 16:379\u2013382.","journal-title":"Nat Genet"},{"key":"4_CR14","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/S0960-8966(01)00252-8","volume":"12","author":"K. Donner","year":"2002","unstructured":"Donner K, Ollikainen M, Ridanpaa M et al. Mutations in the beta-tropomyosin (TPM2) gene\u2014A rare cause of nemaline myopathy. Neuromuscul Disord 2002; 12:151\u2013158.","journal-title":"Neuromuscul Disord"},{"key":"4_CR15","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1212\/01.WNL.0000046585.81304.BC","volume":"60","author":"M.M. Ryan","year":"2003","unstructured":"Ryan MM, Ilkovski B, Strickland CD et al. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology 2003; 60:665\u2013673.","journal-title":"Neurology"},{"key":"4_CR16","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1002\/ajmg.1320110208","volume":"11","author":"J.G. Hall","year":"1982","unstructured":"Hall JG, Reed SD, Greene G. The distal arthrogryposes: Delineation of new entities\u2014Review and nosologic discussion. Am J Med Genet 1982; 11:185\u2013239.","journal-title":"Am J Med Genet"},{"key":"4_CR17","doi-asserted-by":"crossref","unstructured":"Beals RK. The distal arthrogryposes: A new classification of peripheral contractures. Clin Orthop Relat Res 2005; 203\u2013210.","DOI":"10.1097\/01.blo.0000157540.75191.1d"},{"key":"4_CR18","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1016\/j.nmd.2007.06.258","volume":"17","author":"P. Jouk","year":"2007","unstructured":"Jouk P, Labarre-Vila A, Mezin P et al. A homozygous null mutation in TPM2 gene causes autosomal recessive nemaline myopathy associated with multiple pterygia (Abstract). World Muscle Society 12th International Congress, Sicily, Italy. Neuromusc Disord 2007; 17:837.","journal-title":"Neuromusc Disord"},{"key":"4_CR19","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1212\/01.wnl.0000256339.40667.fb","volume":"68","author":"H. Tajsharghi","year":"2007","unstructured":"Tajsharghi H, Kimber E, Holmgren D et al. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. Neutrology 2007; 68:772\u2013775.","journal-title":"Neutrology"},{"key":"4_CR20","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.nmd.2007.02.015","volume":"17","author":"V.L. Lehtokari","year":"2007","unstructured":"Lehtokari VL, Ceuterick-de Groote C, de Jonghe P et al. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 2007; 17:433\u2013442.","journal-title":"Neuromuscul Disord"},{"key":"4_CR21","doi-asserted-by":"publisher","first-page":"1334","DOI":"10.1001\/archneur.64.9.1334","volume":"64","author":"H. Tajsharghi","year":"2007","unstructured":"Tajsharghi H, Ohlsson M, Lindberg C et al. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Arch Neurol 2007; 64:1334\u20131338.","journal-title":"Arch Neurol"},{"key":"4_CR22","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1212\/WNL.31.9.1113","volume":"31","author":"A. Fidzianska","year":"1981","unstructured":"Fidzianska A, Badurska B, Ryniewicz B et al. \u201cCap disease\u201d: New congenital myopathy. Neurology 1981; 31:1113\u20131120.","journal-title":"Neurology"},{"key":"4_CR23","first-page":"1153","volume":"55","author":"M. Bamshad","year":"1994","unstructured":"Bamshad M, Watkins WS, Zenger RK et al. A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. Am J Hum Genet 1994; 55:1153\u20131158.","journal-title":"Am J Hum Genet"},{"key":"4_CR24","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1086\/368294","volume":"72","author":"S.S. Sung","year":"2003","unstructured":"Sung SS, Brassington AM, Grannatt K et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003; 72:681\u2013690.","journal-title":"Am J Hum Genet"},{"key":"4_CR25","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1006\/jmbi.1998.2125","volume":"283","author":"W.D. Kohn","year":"1998","unstructured":"Kohn WD, Kay CM, Hodges RS. Orientation, positional, additivity and oligomerization-state effects of interhelical ion pairs in alpha-helical coiled-coils. J Mol Biol 1998; 283:993\u20131012.","journal-title":"J Mol Biol"},{"key":"4_CR26","doi-asserted-by":"publisher","first-page":"18878","DOI":"10.1073\/pnas.0509269102","volume":"102","author":"J.H. Brown","year":"2005","unstructured":"Brown JH, Zhou Z, Reshetnikova L et al. Structure of the mid-region of tropomyosin: Bending and binding sites for actin. Proc Natl Acad Sci USA 2005; 102:18878\u201318883.","journal-title":"Proc Natl Acad Sci USA"},{"key":"4_CR27","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1096\/fj.06-6899com","volume":"21","author":"P. Robinson","year":"2007","unstructured":"Robinson P, Lipscomb S, Preston LC et al. Mutations in fast skeletal troponin I, troponin T and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. FASEB J 2007; 21:896\u2013905.","journal-title":"FASEB J"},{"key":"4_CR28","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1002\/ana.20305","volume":"57","author":"M.A. Corbett","year":"2005","unstructured":"Corbett MA, Akkari PA, Domazetovska A et al. An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Ann Neurol, 2005; 57:42\u201349.","journal-title":"Ann Neurol"},{"key":"4_CR29","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1007\/s004390100505","volume":"109","author":"J.T. Dunnen den","year":"2001","unstructured":"den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109:121\u2013124.","journal-title":"Hum Genet"},{"key":"4_CR30","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1016\/j.nmd.2007.01.017","volume":"17","author":"I. Penisson-Besnier","year":"2007","unstructured":"Penisson-Besnier I, Monnier N, Toutain A et al. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study. Neuromuscul Disord 2007; 17:330\u2013337.","journal-title":"Neuromuscul Disord"},{"key":"4_CR31","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1006\/jsbi.2002.4463","volume":"137","author":"E. Araya","year":"2002","unstructured":"Araya E, Berthier C, Kim E et al. Regulation of coiled-coil assembly in tropomyosins. J Struct Biol 2002; 137:176\u2013183.","journal-title":"J Struct Biol"},{"key":"4_CR32","doi-asserted-by":"publisher","first-page":"18547","DOI":"10.1074\/jbc.273.29.18547","volume":"273","author":"C. Dufour","year":"1998","unstructured":"Dufour C, Weinberger RP, Schevzov G et al. Splicing of two internal and four carboxyl-terminal alternative exons in nonmuscle tropomyosin 5 premRNA is independently regulated during development. J Biol Chem 1998; 273:18547\u201318555.","journal-title":"J Biol Chem"},{"key":"4_CR33","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1038\/ng0195-75","volume":"9","author":"N.G. Laing","year":"1995","unstructured":"Laing NG, Wilton SD, Akkari PA et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995; 9:75\u201379.","journal-title":"Nat Genet"},{"issue":"3","key":"4_CR34","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1002\/ana.21308","volume":"63","author":"N.F. Clarke","year":"2008","unstructured":"Clarke NF, Kolski H, Dye DE et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008 Mar:63(3):329\u201337.","journal-title":"Ann Neurol"},{"key":"4_CR35","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1002\/ana.21112","volume":"61","author":"N.F. Clarke","year":"2007","unstructured":"Clarke NF, Ilkovski B, Cooper S et al. The pathogenesis of ACTA1-related congenital fiber type disproportion. Ann Neurol 2007; 61:552\u2013561.","journal-title":"Ann Neurol"},{"key":"4_CR36","first-page":"576","volume":"50","author":"N.G. Laing","year":"1992","unstructured":"Laing NG, Majda BT, Akkari PA et al. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet 1992; 50:576\u2013583.","journal-title":"Am J Hum Genet"},{"key":"4_CR37","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1016\/S0960-8966(99)00053-X","volume":"9","author":"P. Tan","year":"1999","unstructured":"Tan P, Briner J, Boltshauser E et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromuscul Disord 1999; 9:573\u2013579.","journal-title":"Neuromuscul Disord"},{"key":"4_CR38","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1016\/S0960-8966(02)00182-7","volume":"12","author":"H.J. Durling","year":"2002","unstructured":"Durling HJ, Reilich P, Muller-Hocker J et al. De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. Neuromuscul Disord 2002; 12:947\u2013951.","journal-title":"Neuromuscul Disord"},{"key":"4_CR39","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1212\/WNL.59.4.613","volume":"59","author":"D. Wattanasirichaigoon","year":"2002","unstructured":"Wattanasirichaigoon D, Swoboda KJ, Takada F et al. Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology 2002; 59:613\u2013617.","journal-title":"Neurology"},{"key":"4_CR40","doi-asserted-by":"crossref","unstructured":"Lehtokari VL, Pelin K, Donner K et al. Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet. 2008 Apr 2; [Epub ahead of print] PMID: 18382475.","DOI":"10.1038\/ejhg.2008.60"},{"key":"4_CR41","doi-asserted-by":"publisher","first-page":"2312","DOI":"10.1110\/ps.8.11.2312","volume":"8","author":"K. Wagschal","year":"1999","unstructured":"Wagschal K, Tripet B, Lavigne P et al. The role of position a in determining the stability and oligomerization state of alpha-helical coiled coils: 20 amino acid stability coefficients in the hydrophobic core of proteins. Protein Sci 1999; 8:2312\u20132329.","journal-title":"Protein Sci"},{"key":"4_CR42","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1093\/hmg\/10.4.317","volume":"10","author":"M.A. Corbett","year":"2001","unstructured":"Corbett MA, Robinson CS, Dunglison GF et al. A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet 2001; 10:317\u2013328.","journal-title":"Hum Mol Genet"},{"key":"4_CR43","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/S0006-291X(02)00852-5","volume":"296","author":"P.A. Akkari","year":"2002","unstructured":"Akkari PA, Song Y, Hitchcock-DeGregori S et al. Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy. Biochem Biophys Res Commun 2002; 296:300\u2013304.","journal-title":"Biochem Biophys Res Commun"},{"key":"4_CR44","doi-asserted-by":"publisher","first-page":"3217","DOI":"10.1016\/S0006-3495(00)76554-4","volume":"79","author":"J. Moraczewska","year":"2000","unstructured":"Moraczewska J, Greenfield NJ, Liu Y et al. Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation. Biophys J 2000; 79:3217\u20133225.","journal-title":"Biophys J"},{"key":"4_CR45","doi-asserted-by":"publisher","first-page":"2580","DOI":"10.1016\/S0006-3495(02)75600-2","volume":"82","author":"N.J. Greenfield","year":"2002","unstructured":"Greenfield NJ, Fowler VM. Tropomyosin requires an intact N-terminal coiled coil to interact with tropomodulin. Biophys J 2002; 82:2580\u20132591.","journal-title":"Biophys J"},{"key":"4_CR46","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1016\/S0960-8966(02)00138-4","volume":"12","author":"A. Haan de","year":"2002","unstructured":"de Haan A, van der Vliet MR, Gommans IM et al. Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths. Neuromuscul Disord 2002; 12:952\u2013957.","journal-title":"Neuromuscul Disord"},{"key":"4_CR47","doi-asserted-by":"publisher","first-page":"1575","DOI":"10.1172\/JCI7842","volume":"104","author":"D.E. Michele","year":"1999","unstructured":"Michele DE, Albayya FP, Metzger JM. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. J Clin Invest 1999; 104:1575\u20131581.","journal-title":"J Clin Invest"},{"key":"4_CR48","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1086\/303089","volume":"67","author":"J.J. Johnston","year":"2000","unstructured":"Johnston JJ, Kelley RI, Crawford TO et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000; 67:814\u2013821.","journal-title":"Am J Hum Genet"},{"key":"4_CR49","doi-asserted-by":"publisher","first-page":"26159","DOI":"10.1074\/jbc.M303469200","volume":"278","author":"J.P. Jin","year":"2003","unstructured":"Jin JP, Brotto MA, Hossain MM et al. Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. J Biol Chem 2003; 278:26159\u201326165.","journal-title":"J Biol Chem"},{"key":"4_CR50","doi-asserted-by":"publisher","first-page":"13241","DOI":"10.1074\/jbc.M413696200","volume":"280","author":"X. Wang","year":"2005","unstructured":"Wang X, Huang QQ, Breckenridge MT et al. Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. J Biol Chem 2005; 280:13241\u201313249.","journal-title":"J Biol Chem"},{"key":"4_CR51","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1086\/376418","volume":"73","author":"S.S. Sung","year":"2003","unstructured":"Sung SS, Brassington AM, Krakowiak PA et al. Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B. Am J Hum Genet 2003; 73:212\u2013214.","journal-title":"Am J Hum Genet"},{"key":"4_CR52","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1136\/hrt.82.5.621","volume":"82","author":"A. Varnava","year":"1999","unstructured":"Varnava A, Baboonian C, Davison F et al. A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. Heart 1999; 82:621\u2013624.","journal-title":"Heart"},{"key":"4_CR53","first-page":"426","volume":"60","author":"P.A. Krakowiak","year":"1997","unstructured":"Krakowiak PA, O\u2019Quinn JR, Bohnsack JF et al. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet 1997; 60:426\u2013432.","journal-title":"Am J Hum Genet"},{"key":"4_CR54","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1111\/j.1399-0004.2006.00713.x","volume":"70","author":"B. Drera","year":"2006","unstructured":"Drera B, Zoppi N, Barlati S et al. Recurrence of the p.R156X TNN12 mutation in distal arthrogryposis type 2B. Clin Genet 2006; 70:532\u2013534.","journal-title":"Clin Genet"},{"key":"4_CR55","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1007\/s00439-006-0183-4","volume":"120","author":"M. Jiang","year":"2006","unstructured":"Jiang M, Zhao X, Han W et al. A novel deletion in TNN12 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet 2006; 120:238\u2013242.","journal-title":"Hum Genet"},{"key":"4_CR56","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1212\/01.wnl.0000230168.05328.f4","volume":"67","author":"E. Kimber","year":"2006","unstructured":"Kimber E, Tajsharghi H, Kroksmark AK et al. A mutation in the fast skeletal muscle troponin 1 gene causes myopathy and distal arthrogryposis. Neurology 2006; 67:597\u2013601.","journal-title":"Neurology"},{"key":"4_CR57","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ejmg.2005.06.003","volume":"49","author":"A.E. Shrimpton","year":"2006","unstructured":"Shrimpton AE, Hoo JJ. A TNN12 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet 2006; 49:201\u2013206.","journal-title":"Eur J Med Genet"},{"key":"4_CR58","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1038\/ng1775","volume":"38","author":"R.M. Toydemir","year":"2006","unstructured":"Toydemir RM, Rutherford A, Whitby FG et al. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006; 38:561\u2013565.","journal-title":"Nat Genet"},{"key":"4_CR59","doi-asserted-by":"publisher","first-page":"18189","DOI":"10.1074\/jbc.274.26.18189","volume":"274","author":"C.H. Ramos","year":"1999","unstructured":"Ramos CH. Mapping subdomains in the C-terminal region of troponin I involved in its binding to troponin C and to thin filament. J Biol Chem 1999; 274:18189\u201318195.","journal-title":"J Biol Chem"},{"key":"4_CR60","doi-asserted-by":"publisher","first-page":"3473","DOI":"10.1046\/j.1432-1327.2001.02247.x","volume":"268","author":"C. Thirion","year":"2001","unstructured":"Thirion C, Stucka R, Mendel B et al. Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. Eur J Biochem 2001; 268:3473\u20133482.","journal-title":"Eur J Biochem"},{"key":"4_CR61","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1086\/510402","volume":"80","author":"P.B. Agrawal","year":"2007","unstructured":"Agrawal PB, Greenleaf RS, Tomczak KK et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007; 80:162\u2013167.","journal-title":"Am J Hum Genet"},{"key":"4_CR62","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.nmd.2007.02.008","volume":"17","author":"A. Oldfors","year":"2007","unstructured":"Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord 2007; 17:355\u2013367.","journal-title":"Neuromuscul Disord"},{"key":"4_CR63","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1016\/0092-8674(90)90274-I","volume":"62","author":"A.A. Geisterfer-Lowrance","year":"1990","unstructured":"Geisterfer-Lowrance AA, Kass S, Tanigawa G et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990; 62:999\u20131006.","journal-title":"Cell"},{"key":"4_CR64","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1086\/424760","volume":"75","author":"C. Meredith","year":"2004","unstructured":"Meredith C, Herrmann R, Parry C et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet 2004; 75:703\u2013708.","journal-title":"Am J Hum Genet"},{"key":"4_CR65","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/j.neuropharm.2004.07.011","volume":"47","author":"B. Vrhovski","year":"2004","unstructured":"Vrhovski B, Lemckert F, Gunning P. Modification of the tropomyosin isoform composition of actin filaments in the brain by deletion of an alternatively spliced exon. Neuropharmacology 2004; 47:684\u2013693.","journal-title":"Neuropharmacology"}],"container-title":["Advances in Experimental Medicine and Biology","The Sarcomere and Skeletal Muscle Disease"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-0-387-84847-1_4.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,10]],"date-time":"2021-10-10T16:00:06Z","timestamp":1633881606000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-0-387-84847-1_4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"ISBN":["9780387848464","9780387848471"],"references-count":65,"URL":"https:\/\/doi.org\/10.1007\/978-0-387-84847-1_4","relation":{"is-part-of":[{"id-type":"doi","id":"https:\/\/doi.org\/10.1007\/978-0-387-84847-1","asserted-by":"object"}]},"ISSN":["0065-2598"],"issn-type":[{"value":"0065-2598","type":"print"}],"subject":[],"published":{"date-parts":[[2008]]}}}