Phenotype #0000106222

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00133475
Associated disease	LGMD
Phenotype details	severe, no cardiac involvement; no respiratory involvement; no skeletal deformity; 10y-inable to walk (HP:0002540); 5000 (14y) elevated CPK (HP:0003236)
Diagnosis/Initial	dystrophy, muscular, limb-girdle (LGMD)
Inheritance	Unknown
Diagnosis/Definite	LGMD2D
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	-
Protein	WB SGCA absent, SGCG absent, DAG1 slightly reduced, DMD normal
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2009-06-27 16:16:38 +02:00 (CEST)
Date last edited	2020-10-04 11:05:45 +02:00 (CEST)

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