Global Variome shared LOVD

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Phenotype #0000092741 Individual ID 00043868 Associated disease BMD/DMD Diagnosis/Initial dystrophy, muscular, Becker/Duchenne type (BMD/DMD) Diagnosis/Definite dystrophy, muscular, Becker type (BMD) Phenotype details confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); CK level 18065; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) Inheritance Isolated (sporadic) Age/Examination 7y (7 years) Age/Diagnosis 6y Age/Onset - Phenotype/Onset - 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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