Global Variome shared LOVD

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Phenotype #0000138771 Individual ID 00173916 Associated disease DMD Phenotype details severe DMD, CPK 832 IU/l, 13y-wheelchair bound; 16y-not able to use hands, developed feet deformities/spine deformities, ventilation problems, normal intelligence Diagnosis/Initial DMD Inheritance Isolated (sporadic) Diagnosis/Definite DMD Age/Examination 16y (16 years) Age/Onset 03y Phenotype/Onset - Age/Diagnosis - Protein IHC no DMD Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-08-06 22:21:36 +02:00 (CEST) Date last edited 2018-08-06 22:50:26 +02:00 (CEST)

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