Global Variome shared LOVD

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Phenotype #0000125663 Individual ID 00152720 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 30y Diagnosis/Initial myopathy Age/Examination 36y (36 years) Diagnosis/Definite GNE myopathy Age/Diagnosis - Phenotype/Onset difficulty walking Phenotype details see paper; ..., typical clinical and pathological features GNE myopathy incl. distal dominant muscle weakness, muscle biopsy numerous rimmed vacuoles Protein - Biochem - Enzyme/Activity - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-02-09 09:08:03 +01:00 (CET) Date last edited N/A

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