Global Variome shared LOVD

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

Phenotype #0000164025 Individual ID 00215573 Associated disease LGMD Phenotype details muscle biospy inflammation; 10y progression, lost ambulance; CPK elevated (HP:0003236) 5x; lost ability to walk (HP:0006957); lost ability to walk (HP:0006957) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis >46y Age/Onset 15y Phenotype/Onset - Protein IHC or WB DYSF absent Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-10-11 16:59:37 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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