Global Variome shared LOVD

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Phenotype #0000231865 Individual ID 00306017 Associated disease MD Phenotype details max milestone deceased 20y-walk; contractures elbow, knee; scoliosis; elevated CK level (highest 451 U/L); ECG-atrial rest, atrioventricular block; UCG-enlargement right heart and decreased systolic and diastolic function whole heart; EMG-myogenic; muscle biopsy 9y-dystrophic Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite EDMD2 Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 1y 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 2020-07-07 09:28:36 +02:00 (CEST) Date last edited N/A

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