Global Variome shared LOVD

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Phenotype #0000092849 Individual ID 00043904 Associated disease DMD Phenotype details confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >16y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 13252; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 16y (16 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 8m 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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