KEGG   VARIANT: 6442v1
Entry
6442v1                      Variant                                
Name
SGCA mutation
Type
Loss of function
Gene
SGCA  sarcoglycan alpha [KO:K12565]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600119
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00593  Limb-girdle muscular dystrophy
Reference
PMID:9032047
  Authors
Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C
  Title
Mutations in the sarcoglycan genes in patients with myopathy.
  Journal
N Engl J Med 336:618-24 (1997)
DOI:10.1056/NEJM199702273360904
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