Global Variome shared LOVD

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Phenotype #0000155889 Individual ID 00208120 Associated disease MYOP Phenotype details myopathy severe/generalized; cardiac dyspnoe, palpitations; respiratory involvement mild restrictive; ECG-normal; echocardiogram normal; normal CPK (-HP:0003236) Diagnosis/Initial desmin related myopathy Inheritance Familial, autosomal dominant Diagnosis/Definite MFM-1 Age/Examination - Age/Diagnosis - Age/Onset 40y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-07-08 19:40:42 +02:00 (CEST) Date last edited N/A

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