Global Variome shared LOVD

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

Phenotype #0000106694 Individual ID 00133945 Associated disease LGMD Phenotype details weakness predominantly shoulder, pelvic girdle; 500-840 elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD); dilated cardiomyopathy(DCM) Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC normal SGCA, SGCB, SGCD, SSPN, DMD, LAMA2, DAG, no SGCG Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-04-29 22:29:53 +02:00 (CEST) Date last edited 2013-02-01 19:44:13 +01:00 (CET)

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