Global Variome shared LOVD

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Phenotype #0000332566 Individual ID 00443219 Associated disease BMD/DMD Diagnosis/Initial DMD-like Diagnosis/Definite - Phenotype details difficulty running, difficulty jumping; no delayed walking (-HP:0031936); 10y-loss ambulation (HP:0002505); gastrocnemius hypertrophy; tendon contractures (HP:0001771); no myalgia (-HP:0003326), no muscle spasm (-HP:0003394); creatine kinase 17304 IU/l; echocardiology normal; muscle biopsy biceps brachii dystrophic Inheritance Unknown Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 3y 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 2023-11-24 16:14:38 +01:00 (CET) Date last edited N/A

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