Global Variome shared LOVD

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

Phenotype #0000164722 Individual ID 00216270 Associated disease ? Diagnosis/Initial DHS Diagnosis/Definite - Phenotype details CPK elevated (HP:0003236) 1300 Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 1y6m Phenotype/Onset - Protein IHC normal for DMD, LAMA2, SGCs, DYSF, CAV3, DAG1 Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-31 18:26:59 +02:00 (CEST) Date last edited 2012-03-04 15:47:17 +01:00 (CET)

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