Global Variome shared LOVD

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Phenotype #0000116599 Individual ID 00143821 Associated disease ? Diagnosis/Initial myasthenic syndrome, congenital Diagnosis/Definite CMS-9 Phenotype details onset neonatal; 45d-tracheostomy, respiratory distress episodes 6m/8m; 6y-surgical treatment left ptosis; childhood/adolescence favorable course, clinical symptoms improved, no further severe respiratory episodes, slight eyelid ptosis, fatigability on walking, inability sport activities; 22y3m pregnancy suffered aggravating symptoms generalized weakness superior/inferior limb muscles (falls), masticatory difficulties, swallowing disturbances, nasal voice Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 22y Age/Onset - Phenotype/Onset ptosis, respiratory distress Protein test AChR/MuSK antibodies serum negative Tumor/MSI - Diagnosis/Criteria - 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 09:54:08 +01:00 (CET) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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