Phenotype #0000153614

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00205433
Associated disease	LGMD1
Phenotype details	limb girdle weakness; no elevated serum creatine phosphokinase (-HP:0003236)
Diagnosis/Initial	limb-girdle muscular dystrophy, autosomal dominant
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	LGMD-1E
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	muscle biopsy suggestive of inclusion body myopathy
Owner name	Tom Winder
Database submission license
Created by	Johan den Dunnen
Date created	2012-11-20 16:21:08 +01:00 (CET)
Date last edited	2012-11-20 20:07:07 +01:00 (CET)

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