Global Variome shared LOVD

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Phenotype #0000164063 Individual ID 00215611 Associated disease LGMD Phenotype details 10y progression, still ambulant; CPK elevated (HP:0003236) 8x; still able to walk (-HP:0006957) ; still able to walk (-HP:0006957) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis >46y Age/Onset 16y Phenotype/Onset - Protein IHC or WB DYSF absent Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-10-11 16:59:37 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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