Global Variome shared LOVD

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Phenotype #0000203449 Individual ID 00265662 Associated disease LGMD Phenotype details LGMD; elevated CK (102 U/l); biopsy Necrotizing myopathy, partial loss SGCB/SGCG on IHC Diagnosis/Initial LGMD Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-09-30 11:53:15 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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