Global Variome shared LOVD

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Phenotype #0000117092 Individual ID 00124546 Associated disease hCK Phenotype details born at term, birth asphyxia, serum creatine kinase level highly elevated (25 510 IU/l); 15m walked unassisted; 2y-muscle biopsy no reactive dystrophin; 3y- serum creatine kinase was 21 776 IUl1, normal growth, moderate mental retardation (developmental quotient: 40); MRI brain normal Diagnosis/Initial hyperCkemia Inheritance Isolated (sporadic) Diagnosis/Definite DMD, MR Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - 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 2017-12-08 20:31:27 +01:00 (CET) Date last edited N/A

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