Phenotype #0000106601

Individual ID 00133852
Associated disease LGMD
Phenotype details 13y-inable to walk (HP:0002540); 9750 elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite LGMD2C
Age/Examination -
Age/Diagnosis 8y
Age/Onset -
Phenotype/Onset -
Protein IHC DMD normal, SGCG absent
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 2007-07-13 16:38:45 +02:00 (CEST)
Date last edited 2020-10-04 11:07:05 +02:00 (CEST)

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