Global Variome shared LOVD

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

Phenotype #0000164208 Individual ID 00215756 Associated disease MMD Phenotype details CPK elevated (HP:0003236) 16400, hyper CKemia, exercise-induced fatigue Diagnosis/Initial Myoshi myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite hyperCKemia Age/Examination - Age/Diagnosis 26y Age/Onset 16y Phenotype/Onset hyper CKemia Protein IHC DYSF reduced Owner name Rumiko Izumi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-01-03 10:37:10 +01:00 (CET) Date last edited 2020-05-02 19:06:37 +02:00 (CEST)

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