Global Variome shared LOVD

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Phenotype #0000363031 Individual ID 00478516 Associated disease MYOP Diagnosis/Initial vacuolar myopathy Diagnosis/Definite MDDGC5 Phenotype details see paper; ..., no weakness facial muscles; no weakness neck muscles; no weakness trunk muscles; weakness proximal upper limb muscles; no weakness distal upper limb muscles; weakness proximal lower limb muscles; weakness distal lower limb muscles; elevated creatine kinase level (max. 1775U/L); cardiomyopathy, 37y-cardioverter defibrillator implant Inheritance Familial, autosomal recessive Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset 31y 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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