Global Variome shared LOVD

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Phenotype #0000125762 Individual ID 00153035 Associated disease CMS Phenotype details 5y-walking; 8y-ophthalmoparesis; 10y-fatigability; 13y-contractures knee/hip; 13y-loss ambulation; positive edrophonium test Diagnosis/Initial syndrome, myasthenic, congenital, slow channel (SCCMS) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 0d Phenotype/Onset poor head control, weak suck 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 2012-03-09 19:17:22 +01:00 (CET)

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