Global Variome shared LOVD

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Phenotype #0000051340 Individual ID 00065233 Associated disease LGMD2 Phenotype details atypical phenotype, no classical features of desminopathy, neither cardiomyopathy nor typical histological changes; IF staining/WB analysis show preserved expression cytoskeletal network formation variant desmin in skeletal muscle fibres Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-05-23 21:44:14 +02:00 (CEST) Date last edited N/A

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