Global Variome shared LOVD

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Phenotype #0000242280 Individual ID 00320229 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details 6y-muscle weakness; slowly progressive proximal muscle weakness; calf hypertrophy; CK 241 U/L; 50y-ECG complete R bundle branch block, tachycardia Inheritance Familial, autosomal recessive Age/Examination 52y (52 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 2020-11-24 18:47:34 +01:00 (CET) Date last edited 2020-11-24 18:50:14 +01:00 (CET)

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