Phenotype #0000231869

Individual ID 00306021
Associated disease MD
Phenotype details max milestone 10y9m-run; contractures elbow; rigid spine; elevated CK level (highest 427 U/L); ECG normal; UCG-normal; EMG-myogenic; muscle biopsy 3y-dystrophic
Diagnosis/Initial Emery-Dreifuss muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite EDMD2
Age/Examination 10y9m (10 years, 9 months)
Age/Diagnosis -
Age/Onset 1y3m
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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