Global Variome shared LOVD

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Phenotype #0000268891 Individual ID 00373617 Associated disease MD Phenotype details 6y11m-sit aided; contractures wrist,; rigid spine; higherst CK level 1156 (U/L); ECG normal; UCG normal; 6.9y-muscle biopsy dystrophic Diagnosis/Initial congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3m 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 2021-05-17 11:33:20 +02:00 (CEST) Date last edited N/A

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