| 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 | 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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| 3 | 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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| 4 | 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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| 5 | TNNI2, AMCD2B
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| Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.
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| Drera B, Zoppi N, Barlati S, Colombi M.
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| Clin Genet 70(6):532-4. No abstract available. 2006
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| 6 | TNNI2, AMCD2B
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| A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.
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| Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.
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| Neurology 67(4):597-601. 2006
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| 7 | AMCD2B, TNNI2
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| A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
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| Jiang M, Zhao X, Han W, Bian C, Li X, Wang G, Ao Y, Li Y, Yi D, Zhe Y, Lo WH, Zhang X, Li J.
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| Hum Genet 120(2):238-42. Epub 2006 Jun 27.
2006
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| 8 | AMCD1, AMCD2B, TNNI2, TPM2
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| Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
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| Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.
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| Am J Hum Genet 72(3):681-90. 2003
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| 9 | 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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| 10 | AMCD2B
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| Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).
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| Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M.
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| Am J Med Genet 76(1):93-8. 1998
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| 11 | AMCD2B
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| A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.
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| Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB,Bamshad M.
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| Am J Hum Genet 60(2):426-32. 1997
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