Phenotype #0000094263

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00122596
Associated disease	BMD
Phenotype details	elevated serum CPK (HP:0003236) 1607-21100
Diagnosis/Initial	dystrophy, muscular, Becker type (BMD)
Inheritance	Unknown
Diagnosis/Definite	BMD;hCK
Age/Examination	8y (8 years)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	3y
Protein	IHC DMD C-terminal 0, N-terminal weak, patchy, discontinuous staining
Owner name	Masafumi Matsuo
Database submission license
Created by	Johan den Dunnen
Date created	1992-11-01 12:00:00 +01:00 (CET)
Date last edited	2012-03-09 19:39:25 +01:00 (CET)

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