Global Variome shared LOVD

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Phenotype #0000332565 Individual ID 00443218 Associated disease BMD/DMD Diagnosis/Initial DMD-like Diagnosis/Definite - Phenotype details progressive lower limb weakness; delayed walking (HP:0031936); 6y-loss ambulation (HP:0002505); gastrocnemius hypertrophy; tendon contractures (HP:0001771); no myalgia (-HP:0003326), no muscle spasm (-HP:0003394); creatine kinase 28570 IU/l; echocardiology normal; muscle biopsy biceps brachii dystrophic Inheritance Unknown Age/Examination 8y6m (8 years, 6 months) Age/Diagnosis - Age/Onset 4y6m 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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