Global Variome shared LOVD

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Phenotype #0000352878 Individual ID 00467713 Associated disease DMD Phenotype details see paper; ..., 2y-weakness in both lower limbs; 6y-Gowers’ sign (difficulty going upstairs, gait with peculiar oscillating characters, characteristic ways to rise from floor), cannot run/jump, reduced strength both upper limbs; bilateral gastrocnemius muscle hypertrophy, contracture bilateral ankle joint, foot drop; significantly increased serum CK (34x) Diagnosis/Initial muscle weakness Inheritance Familial, X-linked recessive Diagnosis/Definite DMD Age/Examination 07y (7 years) Age/Onset - 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 2025-10-27 19:35:23 +01:00 (CET) Date last edited N/A

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