Global Variome shared LOVD

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Phenotype #0000358065 Individual ID 00473270 Associated disease CMS Phenotype details sporadic case, upper and lower muscle weaknesss, proximal muscle cramps, facial weakness, tremor, positive Gower’s sign, fasciculation, neuromuscualr junction disorder reported in EMG/NCV, normal CPK, normal lumbosacral and thoracic MRI, muscle atrophy (suspected to SMA) reported in muscle biopsy (1391), negative acethyl choline receptor antibody 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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