Global Variome shared LOVD

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Phenotype #0000289222 Individual ID 00396060 Associated disease LGMD Phenotype details childhood onset, progressive limb–girdle weakness; wheelchair bound in 3rd decade; ankle contractures; no scapular winging; prominent calves Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis 23y Age/Onset - Phenotype/Onset toe walking Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-13 08:26:47 +01:00 (CET) Date last edited 2021-12-13 08:55:36 +01:00 (CET)

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