Global Variome shared LOVD

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

Phenotype #0000231526 Individual ID 00305679 Associated disease MD Phenotype details Gardner-Medwin and Walton score 0; elevated serum CK 48x; EMG normal Diagnosis/Initial hyperCKemia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Protein IHC DYSF positive Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-01 11:52:35 +02:00 (CEST) Date last edited N/A

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