Global Variome shared LOVD

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Phenotype #0000321454 Individual ID 00430679 Associated disease MYOP Phenotype details proximal weakness; raised CK level 220 IU/L; electrodiagnosis chronic, diffuse neurogenic changes; muscle biopsy features of reinnervation and denervation atrophy Diagnosis/Initial myotonic dystrophy Inheritance Unknown Diagnosis/Definite Sandhoff Age/Examination 60y (60 years) Age/Diagnosis - Age/Onset - 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 2023-01-22 15:18:59 +01:00 (CET) Date last edited N/A

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