Global Variome shared LOVD

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Phenotype #0000348311 Individual ID 00460589 Associated disease MYOP Phenotype details see paper; ..., slowly progressing proximal lower limb weakness beginning 45y–65y; serum creatine kinase (CK) levels normal to mildly elevated; EMF myopathic changes, myotonic discharges; some patients (III4, III5, III6) asymptomatic but showed EMG myopathic changes Diagnosis/Initial myopathy Inheritance Familial, autosomal dominant Diagnosis/Definite MRUPAV Age/Examination - 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 2025-01-27 16:26:45 +01:00 (CET) Date last edited N/A

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