Condition: Freeman-Sheldon syndrome
rs121913617 in
MYH3 gene and
Freeman-Sheldon syndrome
PMID 18695058 2008 Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
PMID 16642020 2006 Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
PMID 30826400 2019 The ATPase activity of the three FSS mutant MHC proteins are reduced compared to wild type MHC, with the most severe reduction observed in the T178I mutation.