Phenotype #0000162618

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00214166
Associated disease	LGMD
Phenotype details	proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1469 U/L; 35y-loss ambulation; no cardiac involvement
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2A
Age/Examination	-
Age/Diagnosis	-
Age/Onset	27y
Phenotype/Onset	-
Protein	WB CAPN3 absent
Owner name	Ieke Ginjaar
Database submission license
Created by	Johan den Dunnen
Date created	2007-08-17 16:05:57 +02:00 (CEST)
Date last edited	2020-10-06 14:14:10 +02:00 (CEST)

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