Global Variome shared LOVD

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Phenotype #0000125763 Individual ID 00153036 Associated disease CMS Phenotype details myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS) Inheritance Unknown Diagnosis/Definite - Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 0d Phenotype/Onset myasthenic symptoms Protein no AChR antibodies Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-02-13 11:25:00 +01:00 (CET) Date last edited 2013-01-27 10:21:20 +01:00 (CET)

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