Global Variome shared LOVD

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

Phenotype #0000106071 Individual ID 00133324 Associated disease LGMD Phenotype details >22y-inable to walk (HP:0002540); 50x elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2D Age/Examination - Age/Diagnosis - Age/Onset 2y6m Phenotype/Onset - Protein IHC SGCA reduced, SGCB, SGCG slightly reduced Owner name Ieke Ginjaar Database submission license No license selected Created by Ieke Ginjaar Date created 2007-07-02 13:52:57 +02:00 (CEST) Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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