Global Variome shared LOVD

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Phenotype #0000092740 Individual ID 00043867 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; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 19076; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Inheritance Familial Age/Examination 12y (12 years) Age/Diagnosis 1y 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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