Phenotype #0000106315

Individual ID 00133568
Associated disease LGMD
Phenotype details >28y-inable to walk (HP:0002540); 20x elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite LGMD2E
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset -
Protein IHC SGCA, SGCB, SGCG 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 2020-10-04 11:06:22 +02:00 (CEST)

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