Global Variome shared LOVD

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Phenotype #0000106370 Individual ID 00133623 Associated disease LGMD Phenotype details intermediate, no cardiac involvement; no respiratory involvement; no skeletal deformity; >28y-inable to walk (HP:0002540); 26y-2000 elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Unknown Diagnosis/Definite LGMD2E Age/Examination - Age/Diagnosis - Age/Onset 7y Phenotype/Onset - Protein WB SGCA reduced, SGCG absent, DAG1 severely reduced, DMD normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-06-28 12:14:45 +02:00 (CEST) Date last edited 2020-10-04 11:06:22 +02:00 (CEST)

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