Phenotype #0000358487

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473692
Associated disease	MYOP
Diagnosis/Initial	myopathy
Diagnosis/Definite	-
Phenotype details	started 10y with distal lower muscle weakness, gait abnormality, walking, running difficulty, foot drop, pes cavus, distal lower muscle wasting, fasciculation, muscle cramp, myopathy and rimmed vacuoles reported in muscle biopsy, myopathy reported in EMG and CPK 315U/L.
Inheritance	Unknown
Age/Examination	34y (34 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
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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