Phenotype #0000125794

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00153084
Associated disease	CMS
Phenotype details	profound muscle weakness; ventilator-dependent since birth; improves with Mestinin
Diagnosis/Initial	syndrome, myasthenic, congenital
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Tom Winder
Database submission license	No license selected
Created by	Tom Winder
Date created	2014-06-18 16:59:15 +02:00 (CEST)
Date last edited	2014-06-28 22:06:00 +02:00 (CEST)

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