Phenotype #0000098972

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00126740
Associated disease	BMD/DMD
Diagnosis/Initial	manifesting carrier (DMD)
Diagnosis/Definite	manifesting carrier (DMD)
Phenotype details	manifesting carrier
Inheritance	Familial, X-linked recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC no DMD, mosaic pattern (20% negative fibres)
Owner name	Jonás Juan-Mateu
Database submission license
Created by	Johan den Dunnen
Date created	2013-02-11 12:59:10 +01:00 (CET)
Date last edited	2014-03-18 09:58:14 +01:00 (CET)

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