Phenotype #0000282203

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388663
Associated disease	MYOP
Phenotype details	proximal muscle weakness; CK level 665 IU/L; mild to severe (wheelchair-bound) of both proximal and distal muscles, and dilated cardiomyopathy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-04 20:51:09 +01:00 (CET)
Date last edited	N/A

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