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 InternationalCreative Commons License
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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