Phenotype #0000281597

Individual ID	00388003
Associated disease	LGMDR4;LGMD2E
Phenotype details	HP:0003701 (proximal muscle weakness), HP:0030234 (highly elevated creatine kinase, 7646 U/L); difficulty getting up from ground and climbing stairs, calf hypertrophy; most-affected muscles hip and knee extensors, ankle dorsiflexors; no cardiac involvement; 12y-ambulant
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2E
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	11y
Phenotype/Onset	-
Protein	IHC no SGCB
Owner name	Micaela Carcione
Database submission license
Created by	Micaela Carcione
Date created	2021-11-01 18:05:57 +01:00 (CET)
Date last edited	2021-11-04 15:42:22 +01:00 (CET)

Global Variome shared LOVD