Global Variome shared LOVD

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

Phenotype #0000348018 Individual ID 00460289 Associated disease hCK Phenotype details exercise intolerance; elevated CK level 560-3900 UI/L; myofibrillar features; MRI muscle normal Diagnosis/Initial exercise intolerance Inheritance Unknown Diagnosis/Definite - Age/Examination 10y-18y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein AMPIS (DES…) Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-22 12:23:09 +01:00 (CET) Date last edited N/A

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