Phenotype #0000353085

Individual ID	00467933
Associated disease	LGMD
Phenotype details	see paper; ..., EMG myogenic pattern; serum CK level 10246 IU/L; 9y-loss Independent walking; no cardiac involvement; no calf muscle hypertrophy; scapular winging; contractures; no myalgia; scoliosis; hyperlordosis; Toe walking; Diffuse muscular hypotonia, equinovarus deformity of the feet, areflexia. MR signs of fat involution of the proximal muscles of the upper and lower limbs
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR3
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	-
Protein	IHC moderate disturbance of sarcoglycans and dystrophin distribution, no DYSF in muscle fibers
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-03 21:05:11 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD