Phenotype #0000117341

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00124500
Associated disease	hCK
Phenotype details	mild fatigue, no muscle weakness, no overt pseudohypertrophy, EMG mild myopathy, MRI muscle normal, raised CK (400-500 U/l)
Diagnosis/Initial	hyperCKemia
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	mMyoglobinuria precipitated by infection
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-12-17 22:28:51 +01:00 (CET)
Date last edited	N/A

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