Global Variome shared LOVD

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Phenotype #0000358759 Individual ID 00473964 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details onset 14y with tip-toe walking; Proximal & distal muscle weakness, legs>arms, mild; Difficulty walking, running & climbing steps; Positive Gowers sign; Mild foot dorsiflexion weakness; Elevated CPK; Thigh & shin MRI suggestive of mild degree myositis; Muscle biopsy suggestive of a dystrophic process; EMG-NCV: chronic myopathic disorder. Inheritance Unknown Age/Examination 17y (17 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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