Global Variome shared LOVD

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Phenotype #0000099663 Individual ID 00127440 Associated disease BMD/DMD Diagnosis/Initial symptomatic carrier female Diagnosis/Definite BMD;CMD-3B Phenotype details 17% ejectional fraction; elevated serum CPK (HP:0003236) 10x Inheritance Familial, X-linked Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset contracting viral hepatitis, cardiomegaly Protein IHC DMD muscle moderately reduced, heart absent Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 1998-08-01 12:00:00 +02:00 (CEST) Date last edited 2012-03-04 15:56:12 +01:00 (CET)

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