Global Variome shared LOVD

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Phenotype #0000162857 Individual ID 00214405 Associated disease LGMD Phenotype details CPK elevated (HP:0003236) 296; lost ability to walk (HP:0006957) 30y Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset climbing stairs, frequent falls Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:10:33 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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