Global Variome shared LOVD

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Phenotype #0000164601 Individual ID 00216149 Associated disease EDMD Phenotype details 5y-muscle wasting upper limbs, scapular winging; 10y-Holter supra-ventricular ectopic beats; sick sinus syndrome, intracardiac cardioverter-defibrillator (ICD), no significant sudden death risk factors; CPK elevated (HP:0003236) 3x Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Familial, X-linked Diagnosis/Definite EDMD-1 Age/Examination - Age/Onset 5y Phenotype/Onset muscle weakness, frequent falls, difficulty running Protein IHC no EMD Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-04-11 15:22:15 +02:00 (CEST) Date last edited 2012-03-04 15:57:32 +01:00 (CET)

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