Phenotype #0000106745

Individual ID 00133996
Associated disease MD
Phenotype details severe, suspected DMDL untill SGCG variant was found; ; white crystallin trace of thymidine residuals; 35y-FVC 0.70; no intellectual disability (-HP:0001249); 14y-inable to walk (HP:0002540); 14y-inable to walk (HP:0002540) and sit
Diagnosis/Initial muscular dystrophy, Duchenne-like
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 7y2m
Phenotype/Onset -
Protein WB SGCG/SGCA/SGCB absent, SGCD reduced; IHC SGCD patchy
Owner name Elena Popescu
Database submission license No license selected
Created by Elena Popescu
Date created 2010-03-30 19:53:26 +02:00 (CEST)
Date last edited 2012-03-09 19:32:06 +01:00 (CET)

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