Phenotype #0000106293

Individual ID 00133546
Associated disease MD
Phenotype details >11y-inable to walk (HP:0002540); 60x elevated CPK (HP:0003236)
Diagnosis/Initial muscular dystrophy, Duchenne-like
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein IHC SGCA, SGCB reduced, SGCG slightly reduced
Owner name Ieke Ginjaar
Database submission license No license selected
Created by Ieke Ginjaar
Date created 2007-07-02 14:03:24 +02:00 (CEST)
Date last edited 2012-03-04 16:11:48 +01:00 (CET)

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