Global Variome shared LOVD

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

Phenotype #0000164550 Individual ID 00216098 Associated disease EDMD Phenotype details cardiac problems; CPK elevated (HP:0003236) 251 Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite EDMD-1 Age/Examination - Age/Onset 10y Phenotype/Onset - Protein EMD IHC faint / WB 34kDa Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2005-12-30 15:55:57 +01:00 (CET) Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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