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References

These sources were used to develop the Genetics Home Reference condition summary on Freeman-Sheldon syndrome.

Beals RK. The distal arthrogryposes: a new classification of peripheral contractures. Clin Orthop Relat Res. 2005 Jun;(435):203-10. Review. PubMed citation
Ferrari D, Bettuzzi C, Donzelli O. Freeman-Sheldon syndrome. A case report and review of the literature. Chir Organi Mov. 2008 Sep;92(2):127-31. doi: 10.1007/s12306-008-0053-4. Epub 2008 Aug 1. Review. PubMed citation
Oldfors A, Lamont PJ. Thick filament diseases. Adv Exp Med Biol. 2008;642:78-91. Review. PubMed citation
Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics. 2006 Mar;117(3):754-62. PubMed citation
Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol. 2008 Aug;65(8):1083-90. doi: 10.1001/archneur.65.8.1083. Erratum in: Arch Neurol. 2008 Dec;65(12):1654. PubMed citation
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. Epub 2006 Apr 16. PubMed citation

Reviewed: September 2010

Published: May 20, 2013