Phenotype #0000106321

Individual ID 00133574
Associated disease LGMD
Phenotype details severe; >13y-inable to walk (HP:0002540); 31x elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2E
Age/Examination -
Age/Diagnosis 8y
Age/Onset -
Phenotype/Onset -
Protein IHC no SGCB, DMD in membrane, SGCA, SGCD and SGCG reduced
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 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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