Global Variome shared LOVD

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Phenotype #0000106045 Individual ID 00133298 Associated disease LGMDR5;LGMD2C Phenotype details clinical grade VI/VII; 21y-inable to walk (HP:0002540) Diagnosis/Initial severe autosomal recessive muscular dystrophy, North African type (SCARMD) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis 8y Age/Onset 8y Phenotype/Onset difficulty climbing stairs/running Protein IHC SGCA trace, SGC weak, SSPN weak; WB SGCA trace Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-07-02 13:52:56 +02:00 (CEST) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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