Global Variome shared LOVD

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Phenotype #0000106557 Individual ID 00133808 Associated disease LGMD Phenotype details mild, myopathic; >10y-inable to walk (HP:0002540); 40x elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Familial Diagnosis/Definite LGMD2C Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC SGCG absent, SGCA, SGCB and SGCD reduced, DMD in membrane Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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