Phenotype #0000125663

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152720
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	30y
Diagnosis/Initial	myopathy
Age/Examination	36y (36 years)
Diagnosis/Definite	GNE myopathy
Age/Diagnosis	-
Phenotype/Onset	difficulty walking
Phenotype details	see paper; ..., typical clinical and pathological features GNE myopathy incl. distal dominant muscle weakness, muscle biopsy numerous rimmed vacuoles
Protein	-
Biochem	-
Enzyme/Activity	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-09 09:08:03 +01:00 (CET)
Date last edited	N/A

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