Phenotype #0000106219

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00133472
Associated disease	LGMDR5;LGMD2C
Phenotype details	severe (clinical grade VII), walk tip-toe; 13y-inable to walk (HP:0002540)
Diagnosis/Initial	severe autosomal recessive muscular dystrophy, North African type (SCARMD)
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	6y
Age/Onset	6y
Phenotype/Onset	difficulty climbing stairs/running
Protein	IHC no SGCA, IHC SGC weak, SSPN weak; WB SGCA trace
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2009-04-29 22:48:08 +02:00 (CEST)
Date last edited	2012-03-09 18:58:40 +01:00 (CET)

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