Global Variome shared LOVD

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Phenotype #0000231928 Individual ID 00306080 Associated disease MD Phenotype details max milestone 1y6m-sit aided; contractures ankle, wrist; elevated CK level (highest 445 U/L); ECG normal; UCG-normal; EMG-myogenic; muscle biopsy 1.5y-dystrophic, inflammatory change Diagnosis/Initial LMNA-related congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite CMD Age/Examination 1y6m (1 year, 6 months) Age/Diagnosis - Age/Onset 2m 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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