Phenotype #0000125764

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00153037
Associated disease	CMS
Phenotype details	EMG decremental response on stimulation motor nerves, partial response to cholinesterase inhibitors
Diagnosis/Initial	syndrome, myasthenic, congenital
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	severe myasthenic symptoms requiring ventilation/enteric alimentation
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2011-02-13 11:25:00 +01:00 (CET)
Date last edited	2013-01-27 10:22:45 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.