Global Variome shared LOVD

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Phenotype #0000106348 Individual ID 00133601 Associated disease LGMD Phenotype details Slow; cardiac function normal; respiratory function normal; 92x elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Unknown Diagnosis/Definite LGMD2E Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein IHC SGCA partial, SGCB partial, SGCG partial, SGCD partial Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-01-19 14:01:27 +01:00 (CET) Date last edited 2020-10-04 11:06:22 +02:00 (CEST)

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