Phenotype #0000125719

Individual ID 00152984
Associated disease CMS
Phenotype details 7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy
Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS)
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset myasthenic symptoms
Protein no AChR antibodies
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-02-13 11:26:43 +01:00 (CET)
Date last edited 2013-01-27 10:20:15 +01:00 (CET)

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