Phenotype #0000106090

Individual ID 00133343
Associated disease LGMD
Phenotype details proximal muscle weakness lower extremity, no involvement proximal muscles upper limb shoulder girdle; serum CK 76659 U/L; no cardiac involvement
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2D
Age/Examination -
Age/Diagnosis -
Age/Onset 03y
Phenotype/Onset -
Protein IHC SGCA, SGCB, SGCD, SGCG weak/absent
Owner name Ieke Ginjaar
Database submission license No license selected
Created by Ieke Ginjaar
Date created 2007-07-02 13:52:57 +02:00 (CEST)
Date last edited 2020-10-06 12:01:49 +02:00 (CEST)

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