Phenotype #0000357983

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473188
Associated disease	MYOP
Diagnosis/Initial	congenital myopathy
Diagnosis/Definite	-
Phenotype details	onset 29y, Lower muscle cramps & wasting; Difficulty rising from seated position; Muscle pain; Lower limbs weakness; Waddling gait; Lordosis; Gowers sign; Hx. of seizures; Muscle MRI: fatty changes/replacement suggestive of dystrophic myopathy.
Inheritance	Unknown
Age/Examination	43y (43 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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