Global Variome shared LOVD

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

Phenotype #0000155894 Individual ID 00208125 Associated disease MYOP Phenotype details myopathy moderate/distal; no cardiac symptoms; respiratory involvement mild restrictive; echocardiogram normal/persistent foramen ovale; elevated serum CPK (HP:0003236) 3x Diagnosis/Initial desmin related myopathy Inheritance Isolated (sporadic) Diagnosis/Definite MFM-1 Age/Examination - Age/Diagnosis - Age/Onset 31y 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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