KEGG   VARIANT: 4638v1
Entry
4638v1                      Variant                                
Name
MYLK mutation
Type
Loss of function
Gene
MYLK  myosin light chain kinase [KO:K00907]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600922
Network
nt06528  Calcium signaling
Disease
H00801  Familial thoracic aortic aneurysm and dissection
H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
Reference
  Authors
Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM
  Title
Mutations in myosin light chain kinase cause familial aortic dissections.
  Journal
Am J Hum Genet 87:701-7 (2010)
DOI:10.1016/j.ajhg.2010.10.006
Reference
  Authors
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM
  Title
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
  Journal
Am J Hum Genet 101:123-129 (2017)
DOI:10.1016/j.ajhg.2017.05.011
LinkDB

DBGET integrated database retrieval system