Global Variome shared LOVD

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Phenotype #0000348003 Individual ID 00460274 Associated disease hCK Phenotype details asymptomatic, hyperCKemia; elevated CK level 6000-8800 UI/L; dystrophic features, inflammatory features; MRI muscle focal fat replacement leg compartment Diagnosis/Initial asymptomatic, hyperCKemia Inheritance Unknown Diagnosis/Definite - Age/Examination 10y-18y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein WB reduced immunostaining CAPN3, CD68 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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