Global Variome shared LOVD

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

Phenotype #0000162838 Individual ID 00214386 Associated disease LGMD Phenotype details severe; lost ability to walk (HP:0006957); lost ability to walk (HP:0006957) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset LGMD, hCK Protein WB traces CAPN3 no 60kDa Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:10:33 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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