Global Variome shared LOVD

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Phenotype #0000106079 Individual ID 00133332 Associated disease LGMD Phenotype details mild; >35y-inable to walk (HP:0002540); 23x elevated CPK (HP:0003236) Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Familial Diagnosis/Definite LGMD2D Age/Examination - Age/Diagnosis 33y Age/Onset 16y Phenotype/Onset - Protein IHC SGCA and SGCG reduced, DMD in membrane Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-07-02 13:52:56 +02:00 (CEST) Date last edited 2020-10-04 11:05:45 +02:00 (CEST)

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