Phenotype #0000099206

Individual ID 00126974
Associated disease BMD
Phenotype details elevated serum CPK (HP:0003236) 5366
Diagnosis/Initial dystrophy, muscular, Becker type (BMD)
Inheritance Unknown
Diagnosis/Definite BMD
Age/Examination -
Age/Onset 18y
Phenotype/Onset -
Age/Diagnosis -
Protein IHC DMD Dys1 and Dys3 reduced; IHC SGCA, SGCB, SGCG, SGCD, DAG, CAV, Laminin, Merosin normal
Owner name Franziska Joncourt
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-06-03 11:27:01 +02:00 (CEST)
Date last edited 2015-06-05 22:42:00 +02:00 (CEST)

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