Phenotype #0000348313

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460591
Associated disease	LGMD
Phenotype details	see paper; ..., limb-girdle weakness; proximal muscle weakness lower limbs, weakness developed slowly, manifesting as muscle involvement proximal upper limb, and distal muscles partially involved
Diagnosis/Initial	limb-girdle weakness
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	MRUPAV
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-27 16:56:24 +01:00 (CET)
Date last edited	N/A

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