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 InternationalCreative Commons License
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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