Global Variome shared LOVD

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Phenotype #0000231576 Individual ID 00305729 Associated disease GSD Phenotype details 65y-deceased; limb-girdle weakness, respiratory weakness; 55y-non-invasive ventilation; CT brain normal Diagnosis/Initial late-onset Pompe disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD2 Age/Examination 65y (65 years) Age/Diagnosis 57y Age/Onset 44y Phenotype/Onset limb-girdle weakness, respiratory weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-01 13:40:43 +02:00 (CEST) Date last edited N/A

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