KEGG   VARIANT: 57731v1
Entry
57731v1                      Variant                               
Name
SPTBN4 mutation
Type
Loss of function
Gene
SPTBN4  spectrin beta, non-erythrocytic 4 [KO:K06115]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606214
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
Disease
H01810  Congenital myopathy
Reference
PMID:28540413
  Authors
Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke M
  Title
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
  Journal
Hum Genet 136:903-910 (2017)
DOI:10.1007/s00439-017-1814-7
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