| 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 | MYH3, SHHS
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| A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
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| Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V.
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| Am J Med Genet A 176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5.
2018
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| 3 | FSS, IBM3, MMS, MPD1, MYH2, MYH3, MYH7, MYH8, SHHS, TPCS
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| Thick filament diseases.
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| Oldfors A, Lamont PJ.
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| Adv Exp Med Biol 642:78-91. Review.PMID: 19181095 2008
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| 4 | MYH3, SHHS
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| Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
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| Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A.
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| Arch Neurol 65(8):1083-90. Erratum in: Arch Neurol. 2008 Dec;65(12):1654. PMID: 18695058 2008
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| 5 | SHHS, FSS, MYH3
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| Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes.
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| Wagner LA, Mazarei G.
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| Clin Genet 70(3):192-3. 2006
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| 6 | FSS, MYH3, SHHS
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| Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
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| Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ.
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| Nat Genet 38(5):561-5. Epub 2006 Apr 16. 2006
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| 7 | FSS, MYH3, SHHS
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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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