Global Variome shared LOVD

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Phenotype #0000363058 Individual ID 00478543 Associated disease MYOP Diagnosis/Initial vacuolar myopathy Diagnosis/Definite - Phenotype details see paper; ..., no weakness facial muscles; no weakness neck muscles; no weakness trunk muscles; no weakness proximal upper limb muscles; no weakness distal upper limb muscles; weakness left proximal lower limb muscles; weakness left distal lower limb muscles; elevated creatine kinase level (max. 1255U/L); atrophy of left thigh, pes cavus bilateral Inheritance Unknown Age/Examination 59y (59 years) Age/Diagnosis - Age/Onset 56y 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 2026-05-11 11:29:23 +02:00 (CEST) Date last edited N/A

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