Phenotype #0000163939

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00215487
Associated disease	LGMD
Phenotype details	distal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1785 U/L; 28y-loss ambulation
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2B
Age/Examination	-
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	-
Protein	IHC DYSF absent
Owner name	Ieke Ginjaar
Database submission license
Created by	Johan den Dunnen
Date created	2007-08-24 21:14:03 +02:00 (CEST)
Date last edited	2020-10-05 09:43:52 +02:00 (CEST)

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