Global Variome shared LOVD

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Phenotype #0000351848 Individual ID 00466485 Associated disease MYOP Phenotype details see paper; ..., elevated plasma CK level, 3 acute episodes muscular weakness; lumbar hyperlordosis, winged scapula; reduced tendon reflexes; no ataxia, no extrapyramida; MRI brain normal Diagnosis/Initial elevated plasma CK level Inheritance Familial, autosomal recessive Diagnosis/Definite MPXPS Age/Examination 03y06m (3 years, 6 months) 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 2025-09-08 14:34:32 +02:00 (CEST) Date last edited N/A

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