Global Variome shared LOVD

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

Phenotype #0000085850 Individual ID 00108256 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details MPD; CPK ~2125 Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein IHC CAV3 and DYSF markedly reduced, WB CAV3 absent / DYSF normal 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 2003-01-18 17:03:34 +01:00 (CET) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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