Phenotype #0000119655

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00146592
Associated disease	LGMD
Phenotype details	proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle at presentation, CPK 7550, no cardiac involvement, 35y-non-invasive ventilation
Diagnosis/Initial	dystrophy, muscular, limb-girdle
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2I
Age/Examination	-
Age/Diagnosis	-
Age/Onset	17y
Phenotype/Onset	-
Protein	-
Owner name	Ieke Ginjaar
Database submission license
Created by	Johan den Dunnen
Date created	2007-08-31 17:40:57 +02:00 (CEST)
Date last edited	2020-10-04 11:04:50 +02:00 (CEST)

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