Global Variome shared LOVD

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Phenotype #0000358240 Individual ID 00473445 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details sporadic case, started since childhood with proximal and distal lower and upper muscle weakness, positive Gowers` sign, facial weakness, bilateral ptosis, chronic demyelinating sensorimotor poly neuropathy reported in EDX Inheritance Unknown Age/Examination 26y (26 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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