Phenotype #0000119664

Individual ID 00146622
Associated disease LGMD
Phenotype details CPK 7500
Diagnosis/Initial dystrophy, muscular, limb-girdle
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD2I
Age/Examination -
Age/Diagnosis -
Age/Onset 6m
Phenotype/Onset delayed motor development
Protein IHC DAG1 absent, SGCA, SGCB, SGCG reduced
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 2007-08-31 17:44:39 +02:00 (CEST)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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