Phenotype #0000106294

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00133547
Associated disease	MD
Phenotype details	44y-inable to walk (HP:0002540); 24x elevated CPK (HP:0003236)
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	IHC SGCA, SGCB, SGCG reduced
Owner name	Ieke Ginjaar
Database submission license	No license selected
Created by	Ieke Ginjaar
Date created	2007-07-02 14:03:24 +02:00 (CEST)
Date last edited	2012-03-09 19:02:29 +01:00 (CET)

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