Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000231578 Individual ID 00305731 Associated disease GSD Phenotype details ambulatory; limb-girdle weakness; 41y-non-invasive ventilation; CT brain normal Diagnosis/Initial late-onset Pompe disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD2 Age/Examination 53y (53 years) Age/Diagnosis 42y Age/Onset 29y Phenotype/Onset limb-girdle 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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