Phenotype #0000231428

Individual ID	00305581
Associated disease	LGMD
Phenotype details	hyperCKemia with mild muscle weakness; proximal lower limb weakness; elevated serum CK (7873 IU/L); running with difficulties; proximal muscle weakness; no calf hypertrophy; no tendon contractures; no scapular winging; no muscle pain; muscle biopsy dystrophic
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2E
Age/Examination	9y1m (9 years, 1 month)
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	proximal lower limb weakness
Protein	IHC SGCA severly reduced, SGCB absent, SGCG severely reduced
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-30 17:17:40 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD