KEGG   VARIANT: 1605v1
Entry
1605v1                      Variant                                
Name
DAG1 mutation
Type
Loss of function
Gene
DAG1  dystroglycan 1 [KO:K06265]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 128239
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00593  Limb-girdle muscular dystrophy
H02307  Muscular dystrophy-dystroglycanopathy
Reference
PMID:21388311
  Authors
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltran-Valero de Bernabe D, Gundesli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloglu H, Dincer P, Campbell KP
  Title
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
  Journal
N Engl J Med 364:939-46 (2011)
DOI:10.1056/NEJMoa1006939
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