Global Variome shared LOVD

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Phenotype #0000357705 Individual ID 00472910 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details onset 29y, Neuropathy, distal lower limbs; Muscle weakness, distal & proximal (lower limbs); Difficulty climbing steps and rising from seated position; Foot dorsiflexor weakness; Axial weakness; Muscle cramps in distal limbs; Varicocele; Fat deposition in left arm, both thighs and legs MRI; EMG-NCV: chronic myopathic disorders and chronic neurogenic process suggestive of MND; Muscle biopsy: suggestive of neurogenic atrophy. Inheritance Unknown Age/Examination 34y (34 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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