Phenotype #0000238525

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: David Baux

Individual ID	00314723
Associated disease	LGMD
Phenotype details	muscle biopsy dystrophic
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2E
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC all sarcoglycans defective
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-15 08:25:08 +02:00 (CEST)
Date last edited	N/A

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