Phenotype #0000106561

Individual ID 00133812
Associated disease LGMD
Phenotype details severe, myopathic; 15y-inable to walk (HP:0002540); 8x elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2C
Age/Examination -
Age/Diagnosis -
Age/Onset 10y
Phenotype/Onset -
Protein IHC SGCA and SGCG absent, SGCB and SGCD reduced, DMD in membrane
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 2007-07-13 16:38:45 +02:00 (CEST)
Date last edited 2020-10-04 11:07:05 +02:00 (CEST)

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