Literature citations
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir R.M.; Rutherford A.; Whitby F.G.; Jorde L.B.; Carey J.C.; Bamshad M.J.;
Nat. Genet. 38:561-565(2006)
Cited for: INVOLVEMENT IN DA2A; INVOLVEMENT IN DA2B3; VARIANTS DA2A ILE-178; GLY-498; SER-583; CYS-672; HIS-672 AND ASP-825; VARIANTS DA2B3 ILE-178; PHE-261; CYS-292; LYS-375; TYR-517; VAL-769 AND GLU-838; LEU-841 DEL; VARIANTS ALA-1622 AND VAL-1637;
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
Tajsharghi H.; Kimber E.; Kroksmark A.K.; Jerre R.; Tulinius M.; Oldfors A.;
Arch. Neurol. 65:1083-1090(2008)
Cited for: INVOLVEMENT IN DA2B3; VARIANT DA2A ILE-178; VARIANTS DA2B3 THR-234 AND GLY-462;
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