Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

@article{Toydemir2006MutationsIE,
  title={Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome},
  author={Reha M Toydemir and Ann E Rutherford and Frank G. Whitby and Lynn B. Jorde and John C Carey and Michael J Bamshad},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={561-565}
}
The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis. FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype… CONTINUE READING
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Mutations in the slow skeletal muscle fiber myosin heavy chain (MYH7) cause Laing early onset distal myopathy (MPD1)

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