Global Variome shared LOVD

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

Phenotype #0000165126 Individual ID 00216674 Associated disease MYOP Phenotype details inflammatory cellular infiltration marked/patchy; necrotic and regenerating process moderate; endomysial fibrosis moderate; atrial fibrillation, AV block, premature atrial contraction, premature ventricular contraction; no contractures; no respiratory dysfunction; 11y-diffuse involvement with relative sparing of RF/GR/SA; CPK elevated (HP:0003236) 800; walk 18m; lost ability to walk (HP:0006957) 9y Diagnosis/Initial early onset myopathy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 5m Phenotype/Onset motor delay Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-03-04 15:14:25 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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