Global Variome shared LOVD

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

Phenotype #0000155888 Individual ID 00208119 Associated disease MYOP Phenotype details myopathy mild/distal; no cardiac symptoms; no respiratory involvement; ECG-normal; echocardiogram normal; elevated serum CPK (HP:0003236) 2x Diagnosis/Initial desmin related myopathy Inheritance Familial, autosomal dominant Diagnosis/Definite MFM-1 Age/Examination - Age/Diagnosis - Age/Onset - 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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