Individual ID |
00214508 |
Associated disease |
hCK |
Phenotype details |
CPK elevated (HP:0003236) |
Diagnosis/Initial |
hyperCKemia |
Inheritance |
Unknown |
Diagnosis/Definite |
hCK |
Age/Examination |
- |
Age/Diagnosis |
11y |
Age/Onset |
- |
Phenotype/Onset |
- |
Protein |
WB CAPN3 normal, altered autocatalytic activity |
Owner name |
Marina Fanin |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2007-12-28 12:02:22 +01:00 (CET) |
Date last edited |
2012-03-09 19:39:00 +01:00 (CET) |