Global Variome shared LOVD

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Phenotype #0000162615 Individual ID 00214163 Associated disease LGMD Phenotype details CPK elevated (HP:0003236) 7463 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein WB CAPN3 absent, IHC DYSF 80% fibers deficient 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 16:05:57 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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