Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000106372 Individual ID 00133625 Associated disease LGMD Phenotype details severe, no cardiac involvement; respiratory involvement; scoliosis; 25y-inable to walk (HP:0002540); 8812 (12y) elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Unknown Diagnosis/Definite LGMD2E Age/Examination - Age/Diagnosis - Age/Onset 8y Phenotype/Onset - Protein WB SGCA reduced, SGCG absent, DAG1 reduced, DMD slightly reduced/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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