Global Variome shared LOVD

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Phenotype #0000357841 Individual ID 00473046 Associated disease LGMD Phenotype details onset since 15y ago with abnormal gait; Difficulty climbing steps and running; Increased fatigue; Proximal & distal weakness in lower limbs; EMG-NCV: mild myopathic process; Elevated CPK; Muscle biopsy suggestive of muscular dystrophy with many lobulated fibers. Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination 32y (32 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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