Phenotype #0000164202

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00215750
Associated disease	LGMD
Phenotype details	progressive muscle weakness, muscle atrophy, choreic movement all limbs
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2B
Age/Examination	-
Age/Diagnosis	53y
Age/Onset	31y
Phenotype/Onset	weakness in standing up
Protein	-
Owner name	Rumiko Izumi
Database submission license
Created by	Johan den Dunnen
Date created	2012-01-03 10:37:10 +01:00 (CET)
Date last edited	2020-05-02 17:30:23 +02:00 (CEST)

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