Global Variome shared LOVD

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Phenotype #0000092708 Individual ID 00043866 Associated disease BMD/DMD Diagnosis/Initial dystrophy, muscular, Becker/Duchenne type (BMD/DMD) Diagnosis/Definite dystrophy, muscular, Duchenne type (DMD) Phenotype details contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <08y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 4439 Inheritance Isolated (sporadic) Age/Examination 10y (10 years) Age/Diagnosis 04y Age/Onset - Phenotype/Onset - Protein - Owner name Manuel F. Mas Rodriguez Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Manuel F. Mas Rodriguez Date created 2015-05-12 16:00:54 +02:00 (CEST) Date last edited N/A

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