Phenotype #0000106024

Individual ID 00133277
Associated disease LGMD
Phenotype details severe; 12y-inable to walk (HP:0002540); 498 elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 6y
Phenotype/Onset difficulty running, climbing stairs
Protein IHC DMD normal, no SGCA, reduced SGCB and SGCG
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-07-02 13:52:57 +02:00 (CEST)
Date last edited 2012-03-09 19:39:00 +01:00 (CET)

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