Global Variome shared LOVD

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Phenotype #0000353069 Individual ID 00467917 Associated disease DMD Phenotype details see paper; ..., EMG myogenic pattern; serum CK level 5121 IU/L; no loss Independent walking; no cardiac involvement; calf muscle hypertrophy; no scapular winging; no contractures; no myalgia; no scoliosis; no hyperlordosis; Toe walking; Positive Gowers sign, lower limb weakness Diagnosis/Initial DMD Inheritance Unknown Diagnosis/Definite - Age/Examination 9y (9 years) Age/Onset 4y Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-03 21:05:11 +01:00 (CET) Date last edited N/A

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