Global Variome shared LOVD

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Phenotype #0000163725 Individual ID 00215273 Associated disease LGMD Phenotype details 14y-lost ability to walk (HP:0006957); proximal muscle weakness lower extremity, involvement proximal muscles upper limb shoulder girdle; serum CK 1284 U/L; cardiac involvement; 69y-invasive ventilation Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis - Age/Onset 08y 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 2007-08-24 21:14:03 +02:00 (CEST) Date last edited 2020-10-05 09:16:56 +02:00 (CEST)

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