Phenotype #0000353018

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00467866
Associated disease	LGMD
Phenotype details	leg weakness, serum CK level 1115 UI/L
Diagnosis/Initial	sarcoglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR3
Age/Examination	70y (70 years)
Age/Diagnosis	-
Age/Onset	62y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-02 20:50:54 +01:00 (CET)
Date last edited	N/A

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