Phenotype #0000125744

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00153016
Associated disease	MPD
Phenotype details	distal muscle weakness, weakness foot dorsiflexion and foot drop, raised CPK 682 IU/L (6x)
Diagnosis/Initial	distal myopathy with rimmed vacuoles
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-10 18:49:14 +01:00 (CET)
Date last edited	N/A

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