 | | NETWORK: N00465 | |
| Entry |
|
|---|
| 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 |
|
|---|
| Variant |
|
|---|
| Reference |
|
|---|
| Authors |
Nowak KJ, Davies KE |
|---|
| Title |
Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| 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 |
|
|---|
| LinkDB |
|
|---|
|
|