Global Variome shared LOVD

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Phenotype #0000358583 Individual ID 00473788 Associated disease MD Phenotype details Muscle weakness, lower>upper; Pseudohypertrophy of calves; Flat foot; Fatigue while walking; Difficulty climbing steps & rising from seated position; EMG-NCV: normal; Muscle biopsy: compatible with muscular dystrophy Diagnosis/Initial muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 8y (8 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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