| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
PYGM glycogen phosphorylase, muscle associated [KO: K00688]
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H01943 | Glycogen storage disease type V |
|
| Reference |
|
| Authors |
Andersen ST, Duno M, Schwartz M, Vissing J |
| Title |
Do carriers of PYGM mutations have symptoms of McArdle disease? |
| Journal |
|
| LinkDB |
|