Global Variome shared LOVD

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Phenotype #0000165117 Individual ID 00216665 Associated disease MYOP Diagnosis/Initial early onset myopathy Diagnosis/Definite - Phenotype details respiratory infections VC 30% (7y), mask mechanical ventilation (8y); CPK elevated (HP:0003236) 7x; walk 18m Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 12m Phenotype/Onset head drop Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-02-17 20:05:39 +01:00 (CET) Date last edited 2017-03-31 14:13:45 +02:00 (CEST)

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