Global Variome shared LOVD

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Phenotype #0000050916 Individual ID 00064757 Associated disease - Phenotype details see paper; ..., myopathy, hypotonia, sensorineural deafness, liver involvement; elevated serum and CSF lactate levels; COX-deficient, ragged-red fibers; deceased from respiratory failure Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset lactic acidosis, hypotonia, feeding difficulties, deafness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-05-10 22:33:53 +02:00 (CEST) Date last edited N/A

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