Global Variome shared LOVD

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

Phenotype #0000106214 Individual ID 00133467 Associated disease LGMD Phenotype details clinical grade VII; 32y-inable to walk (HP:0002540) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2D Age/Examination - Age/Diagnosis - Age/Onset 8y Phenotype/Onset difficulty climbing stairs/running Protein IHC/WB SGCA weak Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-04-29 22:48:08 +02:00 (CEST) Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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