Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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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