Global Variome shared LOVD

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Phenotype #0000092830 Individual ID 00043865 Associated disease DMD Phenotype details confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 16000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 15y (15 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 5y Protein - Owner name Manuel F. Mas Rodriguez Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-05-12 16:00:54 +02:00 (CEST) Date last edited N/A

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