Phenotype #0000231870

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306022
Associated disease	MD
Phenotype details	max milestone 43y-run; contractures elbow, ankle; rigid spine, scoliosis; elevated CK level (highest 293 U/L); ECG-sinus bradycardia
Diagnosis/Initial	Emery-Dreifuss muscular dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	EDMD2
Age/Examination	43y (43 years)
Age/Diagnosis	-
Age/Onset	43y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-07 09:28:36 +02:00 (CEST)
Date last edited	N/A

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