Global Variome shared LOVD

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

Phenotype #0000106754 Individual ID 00134005 Associated disease MD Phenotype details >50x elevated CPK (HP:0003236) Diagnosis/Initial muscular dystrophy, Duchenne-like Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC no SGCG, mild reduction SGCA, normal DMD/LAMA2/SGCB/SGCD Owner name Masafumi Matsuo Database submission license No license selected Created by Masafumi Matsuo Date created 2010-05-21 21:45:02 +02:00 (CEST) Date last edited 2012-03-09 18:27:00 +01:00 (CET)

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