Phenotype #0000282215

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388675
Associated disease	MYOP
Phenotype details	proximal muscle weakness; CK level ; difficulty getting up from ground; Muscles most affected: Iliopsoas, hip adductors, hamstrings and quadriceps. Cardiac involvement: Atrioventricular conduction blocks
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	4y
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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