KEGG   VARIANT: 4621v1
Entry
4621v1                      Variant                                
Name
MYH3 mutation
Type
Loss of function
Gene
MYH3  myosin heavy chain 3 [KO:K24220]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 160720
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00811  Distal arthrogryposis
H02717  Contractures, pterygia, and spondylocarpotarsal fusion syndrome
Reference
PMID:35484034
  Authors
Kamien B, Clayton JS, Lee HS, Abeysuriya D, McNamara E, Martinovic J, Gonzales M, Melki J, Ravenscroft G
  Title
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
  Journal
Neuromuscul Disord 32:445-449 (2022)
DOI:10.1016/j.nmd.2022.03.007
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