Global Variome shared LOVD

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Phenotype #0000357719 Individual ID 00472924 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details normal muscle force, exercise intolerance, mild myopathic atrophy ,rare necrosis and myophagocytosis reported in muscle biopsy, mild myopathic process in EMG/NCV, elevated CPK and normal echocardiography. Inheritance Unknown Age/Examination 31y (31 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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