Global Variome shared LOVD

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Phenotype #0000357837 Individual ID 00473042 Associated disease CMS Phenotype details Bilateral ptosis since the age of 24y; Proximal muscle weakness, upper>lower; Hx. of Hypokalemia; Fatigue; First EMG-NCV was suggestive of Myasthenia Gravis & the Second one was compatible with mild myopathic process; Negative AChR antibodies & MuSK. Diagnosis/Initial congenital myasthenic syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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