Global Variome shared LOVD

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Phenotype #0000268811 Individual ID 00373537 Associated disease MD Phenotype details deceased; 20y-walk; contractures elbow, knee; scoliosis; higherst CK level 451 (U/L); ECG atrial rest, atrioventricular block; UCG enlargement right heart, decreased systolic and diastolic function whole heart; EMG myogenic; 9y-muscle biopsy dystrophic Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - 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 2021-05-17 11:33:20 +02:00 (CEST) Date last edited N/A

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