Phenotype #0000106560

Individual ID	00133811
Associated disease	LGMD
Phenotype details	11y-inable to walk (HP:0002540); 80x elevated CPK (HP:0003236)
Diagnosis/Initial	dystrophy, muscular, limb-girdle (LGMD)
Inheritance	Isolated (sporadic)
Diagnosis/Definite	LGMD2C
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	-
Protein	IHC SGCA, SGCB reduced, SGCG absent
Owner name	Ieke Ginjaar
Database submission license	No license selected
Created by	Ieke Ginjaar
Date created	2007-07-13 16:38:45 +02:00 (CEST)
Date last edited	2020-10-04 11:07:05 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.