Global Variome shared LOVD

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Phenotype #0000231867 Individual ID 00306019 Associated disease MD Phenotype details max milestone deceased 7y-sit; contractures elbow, ankle, knee, hip; elevated CK level (highest 1248 U/L); EMG-neurogenic Diagnosis/Initial LMNA-related congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite CMD Age/Examination 7y3m (7 years, 3 months) Age/Diagnosis - Age/Onset 1d 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 2020-07-07 09:28:36 +02:00 (CEST) Date last edited N/A

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