Global Variome shared LOVD

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

Phenotype #0000085919 Individual ID 00108325 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details myalgia; no rippling, PIRCs, weakness proximal upper&lower limbs mild, hypertrophy, pain, biopsy dystrophic features; CPK 887 Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset pain on exercise Protein IHC CAV3 absent, laminin beta1, DYSF reduced & patchy 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 2008-09-29 23:21:03 +02:00 (CEST) Date last edited 2019-08-02 19:40:52 +02:00 (CEST)

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