Global Variome shared LOVD

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Phenotype #0000119675 Individual ID 00146673 Associated disease LGMD Phenotype details proximodistal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle at presentation, CPK 3125, cardiac involvement, 19y-non-invasive ventilation Diagnosis/Initial dystrophy, muscular, limb-girdle Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination - Age/Diagnosis - Age/Onset 04y 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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