Phenotype #0000119571

Individual ID	00147018
Associated disease	LGMD2
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	dystrophy, muscular, limb-girdle, autosomal recessive
Age/Examination	-
Diagnosis/Definite	LGMD-2I
Age/Diagnosis	5y
Age/Onset	3y
Phenotype/Onset	-
Phenotype details	limb-girdle/Becker-like; mild cardiac abnormalities, fairly stabilized on 0.3-0.4 mg/kg prednisolone. walks short distances but uses scooter for community mobility. Some learning differences - bright but with perceptual issues; CPK 7583
Protein	notably reduced SGCA, mildy reduced DMD/COL6 staining
Owner name	Vikki Stefans
Database submission license	No license selected
Created by	Vikki Stefans
Date created	2014-09-11 02:39:58 +02:00 (CEST)
Date last edited	2014-09-19 14:21:54 +02:00 (CEST)

Global Variome shared LOVD