Global Variome shared LOVD

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Phenotype #0000360093 Individual ID 00475418 Associated disease hCK Phenotype details see paper; ..., asymptomatic; serum CK 1929 (UI/L); muscle biopsy normal Diagnosis/Initial hyperCKemia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-04-09 16:40:18 +02:00 (CEST) Date last edited N/A

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