Global Variome shared LOVD

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

Phenotype #0000347985 Individual ID 00460256 Associated disease hCK Phenotype details asymptomatic, hyperCKemia; elevated CK level 800-2500 UI/L; dystrophic features; MRI muscle normal; EMG myopathic Diagnosis/Initial asymptomatic, hyperCKemia Inheritance Unknown Diagnosis/Definite - Age/Examination 0y-9y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC abnormal sarcolemma immunostaining (DYS1, DYS2, DYS3) 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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