Global Variome shared LOVD

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Phenotype #0000321180 Individual ID 00430383 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite MMCKR Phenotype details see paper; ..., early fatigue after mild-to-moderate physical exertion, exertion-induced myalgia; ECG normal; CK 6600-16,000 U/L Inheritance Familial, autosomal recessive Age/Examination 6y (6 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 2023-01-19 19:10:12 +01:00 (CET) Date last edited N/A

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