Global Variome shared LOVD

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

Phenotype #0000106226 Individual ID 00133479 Associated disease LGMD Phenotype details mild, no cardiac involvement; no respiratory involvement; no skeletal deformity; >50y-inable to walk (HP:0002540); 50y-2000 elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Unknown Diagnosis/Definite LGMD2D Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein WB SGCA severely reduced, SGCG absent, DAG1 reduced, DMD slightly reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-06-27 16:16:38 +02:00 (CEST) Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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