Global Variome shared LOVD

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

Phenotype #0000231572 Individual ID 00305725 Associated disease GSD Phenotype details ambulatory; limb-girdle weakness; 53y-non-invasive ventilation; MRI brain normal Diagnosis/Initial late-onset Pompe disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD2 Age/Examination 55y (55 years) Age/Diagnosis 53y Age/Onset 42y 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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