Global Variome shared LOVD

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Phenotype #0000106219 Individual ID 00133472 Associated disease LGMDR5;LGMD2C Phenotype details severe (clinical grade VII), walk tip-toe; 13y-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 6y Age/Onset 6y Phenotype/Onset difficulty climbing stairs/running Protein IHC no SGCA, IHC 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 2009-04-29 22:48:08 +02:00 (CEST) Date last edited 2012-03-09 18:58:40 +01:00 (CET)

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