1 | AMCD2B, MYH3, SHHS, SHHS2, TNNI2, TNNT3, TPM2
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| A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
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| Xu Y, Kang QL, Zhang ZL.
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| Neuromuscul Disord 28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. 2018
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2 | TNNT1, TNNT2, TNNT3
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| TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
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| Wei B, Jin JP.
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| Gene 582(1):1-13. doi: 10.1016/j.gene.2016.01.006. Epub 2016 Jan 13. Review.
2016
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3 | FRG1, TNNT3
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| Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
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| Sancisi V, Germinario E, Esposito A, Morini E, Peron S, Moggio M, Tomelleri G, Danieli-Betto D, Tupler R.
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| Am J Physiol Regul Integr Comp Physiol 306(2):R124-37. doi: 10.1152/ajpregu.00379.2013. Epub 2013 Dec 4.
2014
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4 | TNNT3
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| Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice.
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| Ju Y, Li J, Xie C, Ritchlin CT, Xing L, Hilton MJ, Schwarz EM.
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| Genesis 51(9):667-75. doi: 10.1002/dvg.22407. Epub 2013 Jul 9.
2013
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5 | AMCD2B, TNNT3
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| Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
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| Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ.
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| Am J Med Genet A 161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.
2013
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6 | TNNT3
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| Nonmyofilament-associated troponin T3 nuclear and nucleolar localization sequence and leucine zipper domain mediate muscle cell apoptosis.
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| Zhang T, Birbrair A, Delbono O.
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| Cytoskeleton (Hoboken) 70(3):134-47. doi: 10.1002/cm.21095. Epub 2013 Feb 1.
2013
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7 | TNNT3
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| Chronic coexistence of two troponin T isoforms in adult transgenic mouse cardiomyocytes decreased contractile kinetics and caused dilatative remodeling.
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| Yu ZB, Wei H, Jin JP.
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| Am J Physiol Cell Physiol 303(1):C24-32. doi: 10.1152/ajpcell.00026.2012. Epub 2012 Apr 25.
2012
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8 | AMCD2B, TNNT3
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| A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
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| Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J.
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| Eur J Med Genet 54(3):351-3. doi: 10.1016/j.ejmg.2011.03.002. Epub 2011 Mar 12.
2011
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9 | TNNT3
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| Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
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| Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB.
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| Clin Orthop Relat Res 467(5):1195-200. doi: 10.1007/s11999-008-0694-5. Epub 2009 Jan 14.
2009
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10 | AMCD1, AMCD2B, TNNI2, TNNT3, TPM2
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| Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
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| Robinson P, Lipscomb S, Preston LC, Altin E, Watkins H, Ashley CC, Redwood CS.
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| FASEB J 21(3):896-905. Epub 2006 Dec 27.
2007
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11 | TNNT3, AMCD2B
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| Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
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| Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M.
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| Am J Hum Genet 73(1):212-4. No abstract available. 2003
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12 | TNNT3
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| Structure and evolution of the alternatively spliced fast troponin T isoform gene.
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| Bucher EA, et al.
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| J Biol Chem 274(25):17661-70. 1999
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13 | TNNI2, TNNT3
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| Localization of the fast skeletal muscle troponin I gene (TNNI2) to 11p15.5 : genes for troponin I and T are organized in pairs.
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| Barton PJR, et al.
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| Ann Hum Genet 61 : 519-523. 1997
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14 | TNNT3
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| Assignment of the human fast skeletal troponin T gene (TNNT3) to chromosome 11p15.5 : evidence for the presence of 11pter in a monochromosome 9 somatic cell hybrid in NIGMS mapping panel 2.
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| Mao C, et al.
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| Genomics 31 : 385-388. 1996
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15 | TNNT3
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| Isolation and characterization of human fast skeletal beta troponin T cDNA : comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family.
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| Wu QL, et al.
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| DNA Cell Biol 13 : 217-233. 1994
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