Phenotype #0000085940

Individual ID 00108346
Associated disease hCK
Phenotype details CPK 900IU/l
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset hyperCkemia, calf hypertrophy
Protein IHC CAV3 markedly reduced at cell surface, DMD/SGCA normal
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 2012-04-15 15:58:24 +02:00 (CEST)
Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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