Phenotype #0000106142

Individual ID 00133395
Associated disease hCK
Phenotype details benign; tiredness; 700-2000 elevated CPK (HP:0003236)
Diagnosis/Initial hyperCKemia
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 24y
Age/Onset -
Phenotype/Onset routine check up
Protein WB severely reduced SGCA, normal SGCG
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-07-02 13:52:57 +02:00 (CEST)
Date last edited 2012-03-09 19:39:00 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.