KEGG   NETWORK: N00465
Entry
N00465                      Network                                

Name
Deleted DMD to dystrophin-associated protein complex
Definition
(DAG1+(SNTA1,SNTB1,SNTB2,SNTG1,SNTG2)+DTNA) // DMD* // (ACTB,ACTG1)
  Expanded
(1605+(6640,6641,6645,54212,54221)+1837) // 1756v1 // (60,71)
Type
Variant
Disease
H01963  Duchenne muscular dystrophy
Gene
1605  DAG1; dystroglycan 1
6640  SNTA1; syntrophin alpha 1
6641  SNTB1; syntrophin beta 1
6645  SNTB2; syntrophin beta 2
54212  SNTG1; syntrophin gamma 1
54221  SNTG2; syntrophin gamma 2
1837  DTNA; dystrobrevin alpha
1756  DMD; dystrophin
60  ACTB; actin beta
71  ACTG1; actin gamma 1
Variant
1756v1 (DMD*)  DMD mutation
Reference
  Authors
Nowak KJ, Davies KE
  Title
Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment.
  Journal
EMBO Rep 5:872-6 (2004)
DOI:10.1038/sj.embor.7400221
Reference
PMID:3055295
  Authors
Malhotra SB, Hart KA, Klamut HJ, Thomas NS, Bodrug SE, Burghes AH, Bobrow M, Harper PS, Thompson MW, Ray PN, et al.
  Title
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
  Journal
Science 242:755-9 (1988)
DOI:10.1126/science.3055295
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