Global Variome shared LOVD

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Phenotype #0000326673 Individual ID 00436495 Associated disease MYOP Phenotype details see paper; ..., 6y-progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase (1283 U/l), MRI brain normal, dystrophinopathy excluded Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite COXPD49 Age/Examination 15y (15 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 2023-09-18 22:08:28 +02:00 (CEST) Date last edited N/A

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