KEGG   VARIANT: 6445v1
Entry
6445v1                      Variant                                
Name
SGCG mutation
Type
Loss of function
Gene
SGCG  sarcoglycan gamma [KO:K12564]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608896
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00593  Limb-girdle muscular dystrophy
Reference
PMID:7481775
  Authors
Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E
  Title
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
  Journal
Science 270:819-22 (1995)
DOI:10.1126/science.270.5237.819
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