Global Variome shared LOVD

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Phenotype #0000165129 Individual ID 00216677 Associated disease MYOP Phenotype details inflammatory cellular infiltration marked/patchy; necrotic and regenerating process mild; endomysial fibrosis moderate; 17y-AV block, 23y-complete AV block; 17y-contractures ankles/knees; no respiratory dysfunction; 24y-died by arrhythmia; CPK elevated (HP:0003236) 600; walk 2y; lost ability to walk (HP:0006957) 12y Diagnosis/Initial early onset myopathy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 11m 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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