KEGG   VARIANT: 25802v1
Entry
25802v1                      Variant                               
Name
LMOD1 mutation
Type
Loss of function
Gene
LMOD1  leiomodin 1 [KO:K22030]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602715
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
Reference
  Authors
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM
  Title
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
  Journal
Proc Natl Acad Sci U S A 114:E2739-E2747 (2017)
DOI:10.1073/pnas.1620507114
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