Global Variome shared LOVD

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

Phenotype #0000163584 Individual ID 00215132 Associated disease LGMD Phenotype details CPK elevated (HP:0003236) 7000 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis - Age/Onset 23y Phenotype/Onset - Protein IHC DYSF absent, CAV3 reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-24 21:14:02 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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