Phenotype #0000231417

Individual ID	00305570
Associated disease	LGMD
Phenotype details	hyperCKemia with intermediate muscle weakness; difficulties in running and climbing stairs; elevated serum CK (5355 IU/L); running with difficulties; proximal muscle weakness; no calf hypertrophy; no tendon contractures; scapular winging; no muscle pain; muscle biopsy dystrophic
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2D
Age/Examination	11y9m (11 years, 9 months)
Age/Diagnosis	-
Age/Onset	9y10m
Phenotype/Onset	difficulties in running and climbing stairs
Protein	IHC SGCA severly reduced, SGCB severely reduced, SGCG 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