Global Variome shared LOVD

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Phenotype #0000106743 Individual ID 00133994 Associated disease MD Phenotype details white crystallin trace of thymidine residuals; 24y-FVC 0.62; 4y-inable to walk (HP:0002540); 4y-inable to walk Diagnosis/Initial muscular dystrophy, Duchenne-like Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 9m Phenotype/Onset - Protein WB no SGCG/SGCA/SGCB, SGCD reduced;IHC SGCD patchy Owner name Elena Popescu Database submission license No license selected Created by Elena Popescu Date created 2010-03-30 18:46:19 +02:00 (CEST) Date last edited 2012-03-04 15:57:57 +01:00 (CET)

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