Global Variome shared LOVD

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Phenotype #0000165128 Individual ID 00216676 Associated disease MYOP Phenotype details inflammatory cellular infiltration mild/focal; necrotic and regenerating process mild; endomysial fibrosis mild; no cardiac involvement; 2y-contractures ankles; no respiratory dysfunction; 4y-CT diffuse involvement with relative sparing of RF/GR, selective involvement SO/mGC; CPK elevated (HP:0003236) 800; walk 15m; lost ability to walk (HP:0006957) 5y Diagnosis/Initial early onset myopathy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1y Phenotype/Onset unsteady gait 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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