Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000106740 Individual ID 00133991 Associated disease MD Phenotype details severe; white cryastallin trace of thymidine residuals; 60y-FVC 0.56; no intellectual disability (-HP:0001249); 4y-inable to walk (HP:0002540); 4y-inable to walk; 8y-inable to sit Diagnosis/Initial muscular dystrophy, Duchenne-like Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 2y9m Age/Onset 5m 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 2010-03-16 20:41:13 +01:00 (CET) Date last edited 2012-03-04 15:57:57 +01:00 (CET)

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