Global Variome shared LOVD

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Phenotype #0000268820 Individual ID 00373546 Associated disease MD Phenotype details 12y2m-walk; contractures ankle, knee, hip; higherst CK level 749 (U/L); ECG sinus arrhythmia; UCG normal; EMG normal; 5y-muscle biopsy dystrophic Diagnosis/Initial congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 13m 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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