Global Variome shared LOVD

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Phenotype #0000358304 Individual ID 00473509 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details sporadic case, started 12y with tip toe walking,climbing difficulty,dysarthria, dysphagia, gait abnormality, severe myopathy reported in EMG,slightly atrophic changes with fiber types uniformity reported in muscle biopsy, slightly elavated LDH abd CPK Inheritance Familial, autosomal recessive Age/Examination 47y (47 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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