Global Variome shared LOVD

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

Phenotype #0000106165 Individual ID 00133418 Associated disease LGMD Phenotype details Slow; cardiac function normal ECG; respiratory function normal; 16x elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Unknown Diagnosis/Definite LGMD2D Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein IHC SGCA partial, SGCB normal, SGCG partial, SGCD normal / WB SGCA36% 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 13:59:01 +01:00 (CET) Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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