Phenotype #0000231874

Individual ID 00306026
Associated disease MD
Phenotype details max milestone 12y2m-walk; contractures ankle, knee, hip; elevated CK level (highest 749 U/L); ECG sinus arrhythmia; UCG-normal; EMG-normal; muscle biopsy 5y-dystrophic
Diagnosis/Initial LMNA-related congenital muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite CMD
Age/Examination 12y2m (12 years, 2 months)
Age/Diagnosis -
Age/Onset 13m
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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