Global Variome shared LOVD

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Phenotype #0000292054 Individual ID 00398965 Associated disease ? Diagnosis/Initial asymptomatic hyperCKemia Diagnosis/Definite - Phenotype details see paper; ..., no limb-girdle weakness; no distal weakness; raised CK (1800 U/L); exercise-induced myalgia; no rhabdomyolysis; muscle biopsy necrosis, no regeneration, nuclei internalization, endomysial inflammation, partial invasion muscle cells, ragged-red fibers (prominent), no lipid accumulation Inheritance Unknown Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset 50y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-14 17:32:41 +01:00 (CET) Date last edited N/A

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