Global Variome shared LOVD

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

Phenotype #0000085806 Individual ID 00108212 Associated disease LGMD Phenotype details phenotype with myalgia, muscle cramps; CPK 800 Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis 4y Age/Onset - Phenotype/Onset - Protein IHC CAV3 near negative; nNOS negative, DAG1 strongly reduced 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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