Global Variome shared LOVD

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Phenotype #0000321447 Individual ID 00430672 Associated disease MYOP Phenotype details myotonia, dysphagia; nornal CK level; temporalis atrophy, mild facial weakness, mild-moderate dysarthria, mild weakness distal upper limb muscles (deep finger flexors); prominent bulbar dysfunction, aspiration pneumonia requiring gastrostomy placement Diagnosis/Initial myotonic dystrophy Inheritance Unknown Diagnosis/Definite DM1 Age/Examination 15y (15 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 2023-01-24 16:52:07 +01:00 (CET)

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