Global Variome shared LOVD

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

Phenotype #0000347981 Individual ID 00460252 Associated disease hCK Phenotype details asymptomatic, hyperCKemia; elevated CK level 900-1500 UI/L; vacuoles, glycogen storage; MRI muscle focal fat replacement medial gastrocnemiu; dried blood spot Pompe positive Diagnosis/Initial asymptomatic, hyperCKemia Inheritance Unknown Diagnosis/Definite - Age/Examination 0y-9y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC normal sarcolemma immunostaining 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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