Phenotype #0000348019

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460290
Associated disease	hCK
Phenotype details	myalgia, cramps, exercise intolerance; elevated CK level 300-4000 UI/L; non-specific myopathic features; MRI muscle normal; EMG myopathic
Diagnosis/Initial	myalgia, cramps, exercise intolerance
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	10y-18y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC abnormal sarcolemma immunostaining (CAV3)
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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