KEGG   VARIANT: 4604v1
Entry
4604v1                      Variant                                
Name
MYBPC1 mutation
Type
Loss of function
Gene
MYBPC1  myosin binding protein C1 [KO:K12557]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 160794
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00811  Distal arthrogryposis
H00865  Lethal congenital contractural syndrome
H01810  Congenital myopathy
Reference
PMID:23873045
  Authors
Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA
  Title
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
  Journal
Hum Mol Genet 22:4967-77 (2013)
DOI:10.1093/hmg/ddt344
Reference
PMID:31264822
  Authors
Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A
  Title
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
  Journal
Hum Mutat 40:1115-1126 (2019)
DOI:10.1002/humu.23760
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