Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000085823 Individual ID 00108229 Associated disease hCK Phenotype details persistent highCK levels; CPK 981 (mother 1968) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein WB CAV3 reduced, DYSF normal, IHC CAV3 and DYSF reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2004-05-27 22:10:16 +02:00 (CEST) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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