KEGG   VARIANT: 9215v1
Entry
9215v1                      Variant                                
Name
LARGE1 deficiency
Type
Loss of function
Gene
LARGE1  LARGE xylosyl- and glucuronyltransferase 1 [KO:K09668]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603590
Network
nt06013  O-Glycan biosynthesis
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H01960  Muscular dystrophy-dystroglycanopathy type B
Reference
  Authors
Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F
  Title
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
  Journal
Ann Neurol 64:573-82 (2008)
DOI:10.1002/ana.21482
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