Phenotype #0000106727

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00133978
Associated disease	LGMD
Phenotype details	proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 6000 U/L; 14y-loss ambulation; cardiac involvement
Diagnosis/Initial	dystrophy, muscular, limb-girdle (LGMD)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2C
Age/Examination	-
Age/Diagnosis	-
Age/Onset	08y
Phenotype/Onset	-
Protein	-
Owner name	Ieke Ginjaar
Database submission license	No license selected
Created by	Ieke Ginjaar
Date created	2009-09-30 21:57:12 +02:00 (CEST)
Date last edited	2020-10-04 12:57:07 +02:00 (CEST)

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