Global Variome shared LOVD

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

Phenotype #0000348009 Individual ID 00460280 Associated disease hCK Phenotype details exercise intolerance; elevated CK level 1000-1200 UI/L; non-specific myopathic features; MRI muscle focal fat replacement vastus lateralis, collagen sign; EMG myopathic Diagnosis/Initial exercise intolerance Inheritance Unknown Diagnosis/Definite - Age/Examination 10y-18y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC normal sarcolemma immunostaining, normal COL6 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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