Phenotype #0000106067

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00133320
Associated disease	LGMD
Phenotype details	12y-inable to walk (HP:0002540); 80x elevated CPK (HP:0003236)
Diagnosis/Initial	dystrophy, muscular, limb-girdle (LGMD)
Inheritance	Isolated (sporadic)
Diagnosis/Definite	LGMD2D
Age/Examination	-
Age/Diagnosis	-
Age/Onset	7y
Phenotype/Onset	-
Protein	IHC SGCA, SGCB reduced, SGCG slightly reduced
Owner name	Ieke Ginjaar
Database submission license	No license selected
Created by	Ieke Ginjaar
Date created	2007-07-02 13:52:57 +02:00 (CEST)
Date last edited	2020-10-04 11:05:45 +02:00 (CEST)

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