Global Variome shared LOVD

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Phenotype #0000358058 Individual ID 00473263 Associated disease CMS Phenotype details Fatigable weakness; Muscle weakness, proximal>distal, lower>upper; Difficulty climbing steps; Slightly increased CPK; Increased SGPT; EMG-NCV: significant decrement in some tested muscles, compatible with neuromuscular junction transmission disorders. Diagnosis/Initial congenital myasthenic syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 24y (24 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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