Global Variome shared LOVD

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Phenotype #0000321824 Individual ID 00431219 Associated disease MYOP Phenotype details see paper; ..., myopathy, lactic acidosis, muscle changes; motor delays; 24m-sit; 3y-walk; frequent muscle aches after muscle use, no history of urine discoloration; mild scoliosis; non-progressive myopia Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MECREN Age/Examination 16y (16 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 2023-02-04 14:55:12 +01:00 (CET) Date last edited N/A

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