Global Variome shared LOVD

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Phenotype #0000358084 Individual ID 00473289 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details Sporadic case, onset 10y , proximal lower and upper muscle weakness, fatigability, ptosis, dilated cardiomyopathy reported in echocardiography, lymphadenopathy, and irritable myopathy process with some myotonic discharge in EMG, glycogen storage myopathy reported in muscle biopsy and sarcolemmal labelling for all examined antibodies reported in IHC Inheritance Familial, autosomal recessive Age/Examination 13y (13 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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