Phenotype #0000106047

Individual ID	00133300
Associated disease	BMD/DMD
Diagnosis/Initial	muscular dystrophy, Duchenne-like
Diagnosis/Definite	-
Phenotype details	14y-inable to walk (HP:0002540); 90x elevated CPK (HP:0003236)
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	-
Protein	IHC SGCA absent, SGCB, SGCG reduced
Owner name	Ieke Ginjaar
Database submission license	No license selected
Created by	Ieke Ginjaar
Date created	2007-07-02 13:52:56 +02:00 (CEST)
Date last edited	2012-03-09 18:58:40 +01:00 (CET)

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