KEGG   VARIANT: 4626v1
Entry
4626v1                      Variant                                
Name
MYH8 mutation
Type
Loss of function
Gene
MYH8  myosin heavy chain 8 [KO:K24220]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 160741
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00811  Distal arthrogryposis
Reference
PMID:17041932
  Authors
Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ
  Title
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
  Journal
Am J Med Genet A 140:2387-93 (2006)
DOI:10.1002/ajmg.a.31495
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