Phenotype #0000348017

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460288
Associated disease	hCK
Phenotype details	asymptomatic, hyperCKemia; elevated CK level 5600-10200 UI/L; mitochondrial features; MRI muscle focal fat replacement medial gastrocnemiu; EMG myopathic
Diagnosis/Initial	asymptomatic, hyperCKemia
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	10y-18y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC normal sarcolemma immunostaining
Owner name	Johan den Dunnen
Database submission license
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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