Phenotype #0000358469

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473674
Associated disease	?
Diagnosis/Initial	rhabdomyolysis
Diagnosis/Definite	-
Phenotype details	Sporadic case, recurrent episodes of muscle weakness ,myalgia and walking difficulty after fever started 5y,elevated CPK and LDH, elevated plasma myoglobin and normal muscle biopsy
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

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