KEGG   VARIANT: 8910v1
Entry
8910v1                      Variant                                
Name
SGCE mutation
Type
Loss of function
Gene
SGCE  sarcoglycan epsilon [KO:K27061]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604149
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00831  Primary dystonia
Reference
  Authors
Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T
  Title
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
  Journal
Nat Genet 29:66-9 (2001)
DOI:10.1038/ng709
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