Global Variome shared LOVD

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Phenotype #0000163655 Individual ID 00215203 Associated disease hCK Phenotype details asymptomatic; CPK elevated (HP:0003236) 26x Diagnosis/Initial hyperCKaemia, isolated Inheritance Unknown Diagnosis/Definite hCK Age/Examination - Age/Diagnosis - Age/Onset 9y Phenotype/Onset - Protein IHC DYSF partial / WB DYSF 0%, CAPN3 reduced, CAV3 normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-12-28 19:59:06 +01:00 (CET) Date last edited 2012-03-09 19:39:00 +01:00 (CET)

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