Global Variome shared LOVD

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

Phenotype #0000163597 Individual ID 00215145 Associated disease MMD Phenotype details CPK elevated (HP:0003236) 2500; lost ability to walk (HP:0006957) 38y Diagnosis/Initial Myoshi myopathy Inheritance Familial Diagnosis/Definite MMD-1 Age/Examination - Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein muscle IHC no DYSF, WB no DYSF Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-24 21:14:02 +02:00 (CEST) Date last edited 2012-03-09 19:03:40 +01:00 (CET)

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