Global Variome shared LOVD

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Phenotype #0000358443 Individual ID 00473648 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details Positive history for Arsenic poisoning; Haematuria; Muscle weakness; Tingling and numbness, hands and feet; Farsightedness; Astigmatism; Muscle weakness, lower limbs; decreased sensation, Feet, bilateral; Difficulty rising from seated position; Difficulty climbing stairs; MRI of tight: focal prominent fat replacement in right gracillis muscles and minimal fat replacement in bilateral gluteal muscles (Dr.AghaGhazvini-1394); EMG-NCV: acute myogenic process involving lower limbs and proximal part of upper limbs, very mild axonal sensory polyneuropathy in distal parts of lower limbs; Elevated level of serum CK; Muscle biopsy: fiber type grouping with no atrophic change. Inheritance Unknown 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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