Phenotype #0000106218

Individual ID 00133471
Associated disease LGMD
Phenotype details clinical grade VII, walk tip-toe; <15y-inable to walk (HP:0002540)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset difficulty climbing stairs/running
Protein IHC no SGCA, WB SGCA trace
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 2009-04-29 22:48:08 +02:00 (CEST)
Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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