Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000358229 Individual ID 00473434 Associated disease CMS Phenotype details Delayed walking; Proximal weakness, upper limbs; Proximal and distal muscle weakness, lower limbs; Gowers sign; Inability to heel walk; Hx of diplopia; EMG-NCV: myopathic process; Muscle biopsy: no evidence of dystrophy; Hx of Thymectomy 8y, Normal IHC-testing Diagnosis/Initial congenital myasthenic syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 22y (22 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.