Global Variome shared LOVD

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Phenotype #0000119686 Individual ID 00146728 Associated disease LGMD Phenotype details proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle in disease course, CPK 11640, loss ambulation 9y, no cardiac involvement Diagnosis/Initial dystrophy, muscular, limb-girdle Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination - Age/Diagnosis - Age/Onset 00y Phenotype/Onset - Protein - Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-31 17:44:39 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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