Global Variome shared LOVD

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

Phenotype #0000268815 Individual ID 00373541 Associated disease MD Phenotype details 10y9m-run; contractures elbow; rigid spine; higherst CK level 427 (U/L); ECG normal; UCG normal; EMG myogenic; 3y-muscle biopsy dystrophic Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1y3m 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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