Phenotype #0000106613

Individual ID 00133864
Associated disease LGMD
Phenotype details progressive; aldolase 78-94; 9y-inable to walk (HP:0002540); 5607-6968 elevated CPK (HP:0003236)
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite LGMD2C
Age/Examination -
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset difficulty walking, ascending stairs, pain lower extremities
Protein IHC no SGCG, reduced SGCA
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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