Global Variome shared LOVD

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Phenotype #0000162954 Individual ID 00214502 Associated disease LGMD Phenotype details dystrophic change, marked variation fibre size, necrotic fibres, rare inflammatory foci (macrophages, eosinophils) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset evolving moderate proximal weakness (upper;lower limbs) Protein IHC LAMA2, EMD, SGCs normal, DYSF irregular, WB CAPN3 absent Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-11-16 18:26:00 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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